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NM_001042351.1(G6PD):c.[376A>G;542A>T] AND G6PD SANTAMARIA

Germline classification:
other (1 submission)
Last evaluated:
May 24, 2017
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:
RCV000011109.5

Alleles description

NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
Other names:
G6PD, ASN126ASP; G6PD A; G6PD A+
HGVS:
  • NC_000023.11:g.154535277T>C
  • NG_009015.2:g.17296A>G
  • NM_000402.4:c.466A>G
  • NM_001042351.3:c.376A>G
  • NM_001360016.2:c.376A>GMANE SELECT
  • NP_000393.4:p.Asn156Asp
  • NP_001035810.1:p.Asn126Asp
  • NP_001035810.1:p.Asn126Asp
  • NP_001346945.1:p.Asn126Asp
  • NC_000023.10:g.153763492T>C
  • NM_000402.3:c.466A>G
  • NM_001042351.1:c.376A>G
  • NM_001042351.2:c.376A>G
  • NM_001042351.3:c.376A>G
Protein change:
N126D; ASN126ASP
Links:
OMIM: 305900.0001; OMIM: 305900.0002; OMIM: 305900.0023; dbSNP: rs1050829
NCBI 1000 Genomes Browser:
rs1050829
Molecular consequence:
  • NM_000402.4:c.466A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.376A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.376A>G - missense variant - [Sequence Ontology: SO:0001583]

NM_000402.4(G6PD):c.632A>T (p.Asp211Val)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
Other names:
G6PD, ASP181VAL; G6PD Malaga
HGVS:
  • NC_000023.11:g.154534440T>A
  • NG_009015.2:g.18133A>T
  • NM_000402.4:c.632A>T
  • NM_001042351.3:c.542A>T
  • NM_001360016.2:c.542A>TMANE SELECT
  • NP_000393.4:p.Asp211Val
  • NP_001035810.1:p.Asp181Val
  • NP_001035810.1:p.Asp181Val
  • NP_001346945.1:p.Asp181Val
  • NC_000023.10:g.153762655T>A
  • NG_009015.1:g.18133A>T
  • NM_001042351.1:c.542A>T
  • NM_001042351.2:c.542A>T
Protein change:
D181V; ASP181VAL
Links:
OMIM: 305900.0023; OMIM: 305900.0049; dbSNP: rs5030872
NCBI 1000 Genomes Browser:
rs5030872
Molecular consequence:
  • NM_000402.4:c.632A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD SANTAMARIA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031336OMIM
no assertion criteria provided
other
(May 24, 2017) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.

Beutler E, Kuhl W.

Am J Hum Genet. 1990 Dec;47(6):1008-12.

PubMed [citation]
PMID:
1978554
PMCID:
PMC1683912

A glucose-6-phosphate dehydrogenase variant, Gd(-) Santamaria found in Costa Rica.

Sáenz GF, Chaves M, Berrantes A, Elizondo J, Montero AG, Yoshida A.

Acta Haematol. 1984;72(1):37-40.

PubMed [citation]
PMID:
6433630

Details of each submission

From OMIM, SCV000031336.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Beutler et al. (1991) found an A-to-T mutation at nucleotide 542 resulting in an asp-to-val substitution at amino acid 181. The subjects were white with 'some evidence of hemolysis' in one but none in the other. This aberrant G6PD, described by Saenz et al. (1984) in 2 unrelated subjects from Costa Rica, is 1 of 4 polymorphic variants that have 2 point mutations. One of these point mutations in each case is 376A-G (asn126asp), the change characteristic of the nondeficient polymorphic variant G6PD A+ (305900.0001).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2023