ClinVar Genomic variation as it relates to human health
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
Variation ID: 7882 Accession: VCV000007882.50
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 1p22.1 1: 94005509 (GRCh38) [ NCBI UCSC ] 1: 94471065 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 20, 2014 Apr 15, 2024 Jan 29, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000350.3:c.6079C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000341.2:p.Leu2027Phe missense NM_001425324.1:c.5857C>T NP_001412253.1:p.Leu1953Phe missense NC_000001.11:g.94005509G>A NC_000001.10:g.94471065G>A NG_009073.1:g.120641C>T NG_009073.2:g.120639C>T P78363:p.Leu2027Phe - Protein change
- L2027F, L1953F
- Other names
- -
- Canonical SPDI
- NC_000001.11:94005508:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00020 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00016
The Genome Aggregation Database (gnomAD) 0.00018
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00020
Exome Aggregation Consortium (ExAC) 0.00021
Trans-Omics for Precision Medicine (TOPMed) 0.00022
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
ABCA4 | - | - |
GRCh38 GRCh37 |
3709 | 4065 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic/Likely pathogenic (5) |
criteria provided, multiple submitters, no conflicts
|
Mar 30, 2023 | RCV000008332.15 | |
Pathogenic (2) |
criteria provided, single submitter
|
Jan 1, 2019 | RCV000008333.8 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Jan 29, 2024 | RCV000085785.34 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000763438.3 | |
Pathogenic (1) |
criteria provided, single submitter
|
Nov 10, 2016 | RCV000826132.5 | |
Pathogenic (1) |
criteria provided, single submitter
|
Aug 12, 2019 | RCV001074885.2 | |
Pathogenic (1) |
criteria provided, single submitter
|
May 4, 2022 | RCV002247268.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Jan 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Severe early-childhood-onset retinal dystrophy
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
Accession: SCV000281947.2
First in ClinVar: Dec 07, 2016 Last updated: Jan 20, 2017 |
Indication for testing: Stargardt disease 1
|
|
Pathogenic
(Jun 18, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000700895.2
First in ClinVar: Jan 20, 2017 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 3
Sex: mixed
|
|
Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000894205.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
Pathogenic
(Nov 10, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Stargardt disease
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000967648.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
The p.Leu2027Phe variant in ABCA4 has been reported in over 30 individuals with Stargardt disease, including 28 compound heterozygous and 3 homozygous individua ls (Allikmets … (more)
The p.Leu2027Phe variant in ABCA4 has been reported in over 30 individuals with Stargardt disease, including 28 compound heterozygous and 3 homozygous individua ls (Allikmets 1997, Bertelsen 2014, Heathfield 2013, Fujinami 2013). Of note, t he individuals homozygous for this variant presented with a later onset and mild er phenotype (Fujinami 2013, Heathfield 2013). The variant has been identified i n 23/66736 of European chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs61751408). Although this variant has been seen in the general population, its frequency is low enough to be consistent wit h a recessive carrier frequency. In vitro functional studies provide some evide nce that the p.Leu2027Phe variant may impact protein function (Biswas 2000). In summary, this variant meets criteria to be classified as pathogenic for Stargard t disease in an autosomal recessive manner based upon observation in patients wi th this disease and functional evidence. (less)
Number of individuals with the variant: 1
|
|
Pathogenic
(Jan 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Cone-rod dystrophy 3
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440311.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
|
|
Likely pathogenic
(Jan 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Severe early-childhood-onset retinal dystrophy
Affected status: yes
Allele origin:
unknown
|
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548038.1
First in ClinVar: Mar 28, 2021 Last updated: Mar 28, 2021 |
Method: long-range PCR
|
|
Pathogenic
(Jun 24, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Severe early-childhood-onset retinal dystrophy
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002557496.1
First in ClinVar: Aug 08, 2022 Last updated: Aug 08, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Stargardt disease 1 (MIM#248200). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0115 - Variants in this gene are known to have variable expressivity (PMID: 31522899). (I) 0200 - Variant is predicted to result in a missense amino acid change from leucine to phenylalanine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD <0.01 (v2 & v3) for a recessive condition (74 heterozygotes, 0 homozygotes). (SP) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0600 - Variant is located in the annotated ABC transporter domain (DECIPHER). (I) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. It has been reported in multiple individuals with autosomal recessive Stargardt disease (ClinVar, PMID: 23695285). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
|
|
Pathogenic
(Jan 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001235490.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2027 of the ABCA4 protein (p.Leu2027Phe). … (more)
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2027 of the ABCA4 protein (p.Leu2027Phe). This variant is present in population databases (rs61751408, gnomAD 0.03%). This missense change has been observed in individuals with Stargardt disease (PMID: 28559085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7882). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 29847635). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Nov 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247598.20
First in ClinVar: May 09, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Mar 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Severe early-childhood-onset retinal dystrophy
Affected status: yes
Allele origin:
germline
|
Molecular Genetics, Royal Melbourne Hospital
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002503687.2
First in ClinVar: Apr 27, 2022 Last updated: Apr 15, 2024 |
Comment:
This sequence change is predicted to replace leucine with phenylalanine at codon 2027 of the ABCA4 protein (p.Leu2027Phe). The leucine residue is highly conserved (100 … (more)
This sequence change is predicted to replace leucine with phenylalanine at codon 2027 of the ABCA4 protein (p.Leu2027Phe). The leucine residue is highly conserved (100 vertebrates, UCSC), and located in the cytoplasmic ATP-binding cassette (ABC) transporter 2 domain. There is a small physicochemical difference between leucine and phenylalanine. The variant is present in a large population cohort at a frequency of 0.02%, which is consistent with recessive carrier frequency (rs61751408, 56/282,804 alleles, 0 homozygotes in gnomAD v2.1.1 - PM2). It is a recurrent variant that has been identified as compound heterozygous or homozygous in multiple Stargardt disease patients, with homozygous cases demonstrating a milder phenotype (PMID: 9054934, 23695285, 23769331 - PM3_VeryStrong). The missense change significantly reduces the ATPase function of the ABC transporter domain in multiple in vitro functional assays (PMID: 11017087, 11123914 - PS3). Multiple lines of computational evidence predict a deleterious effect for the missense substitution (7/7 algorithms - PP3). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as PATHOGENIC. Following criteria are met: PM3_VeryStrong, PS3, PM2, PP3. (less)
|
|
Pathogenic
(Aug 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Retinal dystrophy
Affected status: yes
Allele origin:
germline
|
Blueprint Genetics
Accession: SCV001240489.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
|
|
Pathogenic
(May 11, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448776.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
Clinical Features:
Functional abnormality of the bladder (present) , Bloody diarrhea (present) , Aganglionic megacolon (present) , Chest pain (present) , Abnormal peripheral nervous system morphology (present) … (more)
Functional abnormality of the bladder (present) , Bloody diarrhea (present) , Aganglionic megacolon (present) , Chest pain (present) , Abnormal peripheral nervous system morphology (present) , Peripheral neuropathy (present) , Hand tremor (present) , EMG abnormality (present) , Abnormality of muscle physiology (present) , Abnormality of peripheral nerve conduction (present) , Stuttering (present) , Anxiety (present) , Behavioral abnormality (present) , Depressivity (present) , Tinnitus (present) , Pes cavus (present) , Abnormality of the foot (present) , Hammertoe (present) , Peripheral axonal neuropathy (present) , Skeletal muscle atrophy (present) , Generalized hypotonia (present) , Hemiparesis (present) , Back pain (present) , Chronic pain (present) , Hernia (present) , Abnormality of the male genitalia (present) , Urinary urgency (present) , Abnormality of the nervous system (present) , Movement disorder (present) , Muscle weakness (present) , Abnormality of peripheral nerves (present) , Foot pain (present) , Knee pain (present) , Pain (present) , Acroparesthesia (present) , Clumsiness (present) , Incoordination (present) , Abdominal pain (present) , Nausea (present) , Allergic rhinitis (present) , Headache (present) , Brisk reflexes (present) , Weight loss (present) , Blotching pigmentation of the skin (present) , Gait disturbance (present) , Postural instability (present) , Gait imbalance (present) , Epididymitis (present) , Orchitis (present) , Dysuria (present) , Scrotal pain (present) (less)
Sex: male
|
|
Pathogenic
(May 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Age related macular degeneration 2
Affected status: unknown
Allele origin:
germline
|
Mendelics
Accession: SCV002517480.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
|
|
Pathogenic
(Sep 29, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000329049.10
First in ClinVar: Dec 06, 2016 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect with decreased ATPase function of the protein, reduced expression compared to wild-type, and abnormal localization to the endoplasmic … (more)
Published functional studies demonstrate a damaging effect with decreased ATPase function of the protein, reduced expression compared to wild-type, and abnormal localization to the endoplasmic reticulum (Biswas et al., 2000; Garces et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9666097, 11527935, 11702214, 29884405, 29701254, 29310964, 31429209, 32531858, 33706644, 34795310, 34946930, 35456422, 23695285, 19074458, 24713488, 14517951, 9973280, 11328725, 11726554, 10396622, 10090887, 15161829, 29555955, 29847635, 30609409, 30093795, 30060493, 29126757, 30563929, 27820952, 28559085, 32845050, 9054934, 31589614, 32810830, 33546218, 11123914, 29925512) (less)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551440.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The ABCA4 p.Leu2027Phe variant was identified in 44 of 428 proband chromosomes (frequency: 0.103) from individuals or families with Stargardt Disease, Cone-Rod dystrophy or ABCA4-Associated … (more)
The ABCA4 p.Leu2027Phe variant was identified in 44 of 428 proband chromosomes (frequency: 0.103) from individuals or families with Stargardt Disease, Cone-Rod dystrophy or ABCA4-Associated Retinopathies (Maugeri_1999_PMID:10090887; Bertelsen_2014_PMID:24713488; Heathfield_2013_PMID:23695285, Fishman_2003_PMID:12796258). The variant was identified in dbSNP (ID: rs61751408) and in ClinVar (classified as pathogenic by EGL Genetic Diagnostics, Fulgent Genetics, GeneDx and Institute of Human Genetics, Univ. Regensburg). The variant was also identified in control databases in 56 of 282804 chromosomes at a frequency of 0.000198 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European (non-Finnish) in 45 of 129122 chromosomes (freq: 0.000349), African in 8 of 24968 chromosomes (freq: 0.00032), Other in 1 of 7222 chromosomes (freq: 0.000139) and Latino in 2 of 35436 chromosomes (freq: 0.000056); it was not observed in the Ashkenazi Jewish, East Asian, European (Finnish) and South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. The p.Leu2027 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein. However, in vitro functional studies of the L2027F variant have demonstrated biochemical defects leading to lower protein functionality and altered ATPase function (Sun_2000_PMID: 11017087; Biswas_2000_PMID: 11123914). In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
|
|
Pathogenic
(Jun 01, 2003)
|
no assertion criteria provided
Method: literature only
|
STARGARDT DISEASE 1
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000028540.5
First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023 |
Comment on evidence:
In 3 families, Allikmets et al. (1997) found that individuals with Stargardt macular dystrophy (STGD1; 248200) had a C-to-T transition at nucleotide 5965 of the … (more)
In 3 families, Allikmets et al. (1997) found that individuals with Stargardt macular dystrophy (STGD1; 248200) had a C-to-T transition at nucleotide 5965 of the ABCR gene, predicting a leu1989-to-phe (L1989F) amino acid substitution. In a correction of the numbering system for mutations, necessitated by the finding of an additional 114-bp exon after nucleotide position 4352, Allikmets et al. (1997) indicated that the mutation originally designated LEU1989PHE should be L2027F. In 2 sibs with Stargardt disease, Nasonkin et al. (1998) identified a 6079C-T transition, resulting in a leu2027-to-phe substitution. Fishman et al. (2003) observed this mutation in 2 patients with cone-rod dystrophy (CORD3; 604116) who had comparatively mild funduscopically apparent pigmentary changes. (less)
|
|
Pathogenic
(Jun 01, 2003)
|
no assertion criteria provided
Method: literature only
|
CONE-ROD DYSTROPHY 3
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000028541.5
First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023 |
Comment on evidence:
In 3 families, Allikmets et al. (1997) found that individuals with Stargardt macular dystrophy (STGD1; 248200) had a C-to-T transition at nucleotide 5965 of the … (more)
In 3 families, Allikmets et al. (1997) found that individuals with Stargardt macular dystrophy (STGD1; 248200) had a C-to-T transition at nucleotide 5965 of the ABCR gene, predicting a leu1989-to-phe (L1989F) amino acid substitution. In a correction of the numbering system for mutations, necessitated by the finding of an additional 114-bp exon after nucleotide position 4352, Allikmets et al. (1997) indicated that the mutation originally designated LEU1989PHE should be L2027F. In 2 sibs with Stargardt disease, Nasonkin et al. (1998) identified a 6079C-T transition, resulting in a leu2027-to-phe substitution. Fishman et al. (2003) observed this mutation in 2 patients with cone-rod dystrophy (CORD3; 604116) who had comparatively mild funduscopically apparent pigmentary changes. (less)
|
|
not provided
(-)
|
no classification provided
Method: not provided
|
not provided
Affected status: not provided
Allele origin:
not provided
|
Retina International
Accession: SCV000117927.1
First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.6079C>T
|
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
Highly Variable Disease Courses in Siblings with Stargardt Disease. | Valkenburg D | Ophthalmology | 2019 | PMID: 31522899 |
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. | Garces F | Investigative ophthalmology & visual science | 2018 | PMID: 29847635 |
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. | Stone EM | Ophthalmology | 2017 | PMID: 28559085 |
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. | Schulz HL | Investigative ophthalmology & visual science | 2017 | PMID: 28118664 |
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. | Bertelsen M | Investigative ophthalmology & visual science | 2014 | PMID: 24713488 |
The clinical effect of homozygous ABCA4 alleles in 18 patients. | Fujinami K | Ophthalmology | 2013 | PMID: 23769331 |
Stargardt disease: towards developing a model to predict phenotype. | Heathfield L | European journal of human genetics : EJHG | 2013 | PMID: 23695285 |
ABCA4 disease progression and a proposed strategy for gene therapy. | Cideciyan AV | Human molecular genetics | 2009 | PMID: 19074458 |
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. | Fishman GA | Archives of ophthalmology (Chicago, Ill. : 1960) | 2003 | PMID: 12796258 |
The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase. | Biswas EE | Biochemistry | 2000 | PMID: 11123914 |
Biochemical defects in ABCR protein variants associated with human retinopathies. | Sun H | Nature genetics | 2000 | PMID: 11017087 |
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. | Allikmets R | American journal of human genetics | 2000 | PMID: 10880298 |
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. | Nasonkin I | Human genetics | 1998 | PMID: 9490294 |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | Allikmets R | Nature genetics | 1997 | PMID: 9054934 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA4 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs61751408 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.