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GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 22, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000511367.3

Allele description [Variation Report for GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1]

GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1

Genes:
  • AKAP8L:A-kinase anchoring protein 8 like [Gene - OMIM - HGNC]
  • AKAP8:A-kinase anchoring protein 8 [Gene - OMIM - HGNC]
  • KLF2:KLF transcription factor 2 [Gene - OMIM - HGNC]
  • RAB8A:RAB8A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASAL3:RAS protein activator like 3 [Gene - OMIM - HGNC]
  • WIZ:WIZ zinc finger [Gene - OMIM - HGNC]
  • AP1M1:adaptor related protein complex 1 subunit mu 1 [Gene - OMIM - HGNC]
  • ADGRE2:adhesion G protein-coupled receptor E2 [Gene - OMIM - HGNC]
  • BRD4:bromodomain containing 4 [Gene - OMIM - HGNC]
  • CIB3:calcium and integrin binding family member 3 [Gene - OMIM - HGNC]
  • CHERP:calcium homeostasis endoplasmic reticulum protein [Gene - OMIM - HGNC]
  • CALR3:calreticulin 3 [Gene - OMIM - HGNC]
  • CASP14:caspase 14 [Gene - OMIM - HGNC]
  • C19orf44:chromosome 19 open reading frame 44 [Gene - HGNC]
  • CYP4F11:cytochrome P450 family 4 subfamily F member 11 [Gene - OMIM - HGNC]
  • CYP4F12:cytochrome P450 family 4 subfamily F member 12 [Gene - OMIM - HGNC]
  • CYP4F22:cytochrome P450 family 4 subfamily F member 22 [Gene - OMIM - HGNC]
  • CYP4F2:cytochrome P450 family 4 subfamily F member 2 [Gene - OMIM - HGNC]
  • CYP4F3:cytochrome P450 family 4 subfamily F member 3 [Gene - OMIM - HGNC]
  • CYP4F8:cytochrome P450 family 4 subfamily F member 8 [Gene - OMIM - HGNC]
  • EPS15L1:epidermal growth factor receptor pathway substrate 15 like 1 [Gene - OMIM - HGNC]
  • EPHX3:epoxide hydrolase 3 [Gene - OMIM - HGNC]
  • FAM32A:family with sequence similarity 32 member A [Gene - OMIM - HGNC]
  • HSH2D:hematopoietic SH2 domain containing [Gene - OMIM - HGNC]
  • ILVBL:ilvB acetolactate synthase like [Gene - OMIM - HGNC]
  • MED26:mediator complex subunit 26 [Gene - OMIM - HGNC]
  • NOTCH3:notch receptor 3 [Gene - OMIM - HGNC]
  • OR1I1:olfactory receptor family 1 subfamily I member 1 [Gene - HGNC]
  • OR10H1:olfactory receptor family 10 subfamily H member 1 [Gene - HGNC]
  • OR10H2:olfactory receptor family 10 subfamily H member 2 [Gene - HGNC]
  • OR10H3:olfactory receptor family 10 subfamily H member 3 [Gene - HGNC]
  • OR10H4:olfactory receptor family 10 subfamily H member 4 [Gene - HGNC]
  • OR10H5:olfactory receptor family 10 subfamily H member 5 [Gene - HGNC]
  • OR7A10:olfactory receptor family 7 subfamily A member 10 [Gene - HGNC]
  • OR7A17:olfactory receptor family 7 subfamily A member 17 [Gene - HGNC]
  • OR7A5:olfactory receptor family 7 subfamily A member 5 [Gene - HGNC]
  • OR7C1:olfactory receptor family 7 subfamily C member 1 [Gene - HGNC]
  • OR7C2:olfactory receptor family 7 subfamily C member 2 [Gene - HGNC]
  • PGLYRP2:peptidoglycan recognition protein 2 [Gene - OMIM - HGNC]
  • SMIM7:small integral membrane protein 7 [Gene - HGNC]
  • SLC1A6:solute carrier family 1 member 6 [Gene - OMIM - HGNC]
  • SLC35E1:solute carrier family 35 member E1 [Gene - OMIM - HGNC]
  • SYDE1:synapse defective Rho GTPase homolog 1 [Gene - OMIM - HGNC]
  • TEKTL1:tektin like 1 [Gene - HGNC]
  • TMEM38A:transmembrane protein 38A [Gene - OMIM - HGNC]
  • TPM4:tropomyosin 4 [Gene - OMIM - HGNC]
  • UCA1:urothelial cancer associated 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.12-13.11
Genomic location:
Chr19: 14883158 - 16788770 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1
HGVS:
NC_000019.9:g.(?_14883158)_(16788770_?)del
Links:
dbVar: nssv13639330; dbVar: nsv2773432
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000585152ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 22, 2015) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000585152.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024