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NM_000402.4(G6PD):c.1401T= (p.Tyr467=) AND Glucose 6 phosphate dehydrogenase deficiency

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 26, 2014
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:
RCV000011084.4

Allele description

NM_000402.4(G6PD):c.1401T= (p.Tyr467=)

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.1401T= (p.Tyr467=)
Other names:
G6PD, NT1311, C-T
HGVS:
  • NC_000023.11:g.154532439A=
  • NG_009015.2:g.20134T=
  • NM_000402.4:c.1401T=
  • NM_001042351.2:c.1311T=
  • NP_000393.4:p.Tyr467=
  • NP_001035810.1:p.Tyr437=
  • LRG_148p1:p.Tyr467=
  • NC_000023.10:g.153760654G>A
  • NM_001042351.1:c.1311C>T
  • NP_001035810.1:p.(=)
Links:
OMIM: 305900.0018; dbSNP: rs2230037
GMAF:
0.2159(A), 2230037
NCBI 1000 Genomes Browser:
rs2230037
Allele Frequency:
0.1667, GO-ESP
Molecular consequence:
  • NM_001042351.2:c.1311T= - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Glucose 6 phosphate dehydrogenase deficiency
Identifiers:
MedGen: C0017758

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031311OMIM
no assertion criteria provided
Benign
(Aug 26, 2014) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Two point mutations are responsible for G6PD polymorphism in Sardinia.

De Vita G, Alcalay M, Sampietro M, Cappelini MD, Fiorelli G, Toniolo D.

Am J Hum Genet. 1989 Feb;44(2):233-40.

PubMed [citation]
PMID:
2912069
PMCID:
PMC1715414

Details of each submission

From OMIM, SCV000031311.2

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

Description

De Vita et al. (1989) found a silent C-to-T change at nucleotide 1311 (in exon 11).

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

Last Updated: Oct 5, 2016