NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND G6PD MINNESOTA

Clinical significance:other (Last evaluated: May 24, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011112.3

Allele description [Variation Report for NM_000402.4(G6PD):c.727G>T (p.Val243Leu)]

NM_000402.4(G6PD):c.727G>T (p.Val243Leu)

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.727G>T (p.Val243Leu)
Other names:
G6PD, VAL213LEU; G6PD MARION; G6PD MINNESOTA
HGVS:
  • NC_000023.11:g.154534345C>A
  • NG_009015.2:g.18228G>T
  • NM_000402.4:c.727G>T
  • NM_001042351.3:c.637G>T
  • NM_001360016.2:c.637G>TMANE SELECT
  • NP_000393.4:p.Val243Leu
  • NP_001035810.1:p.Val213Leu
  • NP_001346945.1:p.Val213Leu
  • NC_000023.10:g.153762560C>A
  • NM_001042351.1:c.637G>T
  • NM_001042351.2:c.637G>T
Protein change:
V213L; VAL213LEU
Links:
OMIM: 305900.0024; dbSNP: rs137852326
NCBI 1000 Genomes Browser:
rs137852326
Molecular consequence:
  • NM_000402.4:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.637G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.637G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD MINNESOTA
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031339OMIMno assertion criteria providedother
(May 24, 2017)
germlineliterature only

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

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

Details of each submission

From OMIM, SCV000031339.3

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

Description

Beutler et al. (1991) found that although the patients from whom this variant G6PD was derived were unrelated, all had a G-to-T mutation at nucleotide 637 in exon 6 leading to substitution of leucine for valine-213. The G6PD variants called Gastonia, Marion, and Minnesota were all from patients with nonspherocytic hemolytic anemia (300908).

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

Last Updated: Sep 12, 2021

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