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NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) AND G6PD MAHIDOL-LIKE

Germline classification:
other (1 submission)
Last evaluated:
Apr 18, 2013
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:
RCV000011148.9

Allele description [Variation Report for NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)]

NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)

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.1114C>T (p.Leu372Phe)
Other names:
G6PD, LEU342PHE; G6PD Chinese-5; G6PD Mahidol-like
HGVS:
  • NC_000023.11:g.154532969G>A
  • NG_009015.2:g.19604C>T
  • NM_000402.4:c.1114C>T
  • NM_001042351.3:c.1024C>T
  • NM_001360016.2:c.1024C>TMANE SELECT
  • NP_000393.4:p.Leu372Phe
  • NP_001035810.1:p.Leu342Phe
  • NP_001035810.1:p.Leu342Phe
  • NP_001346945.1:p.Leu342Phe
  • NC_000023.10:g.153761184G>A
  • NM_001042351.1:c.1024C>T
  • NM_001042351.3:c.1024C>T
Protein change:
L342F; LEU342PHE
Links:
OMIM: 305900.0046; dbSNP: rs137852342
NCBI 1000 Genomes Browser:
rs137852342
Molecular consequence:
  • NM_000402.4:c.1114C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD MAHIDOL-LIKE
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031375OMIM
no assertion criteria provided
other
(Apr 18, 2013) 		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

Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene.

Chiu DT, Zuo L, Chao L, Chen E, Louie E, Lubin B, Liu TZ, Du CS.

Blood. 1993 Apr 15;81(8):2150-4.

PubMed [citation]
PMID:
8471773

Details of each submission

From OMIM, SCV000031375.1

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

Description

In a study of the molecular defect in 43 G6PD-deficient Chinese, Chiu et al. (1993) identified a 'new' variant due to a C-to-T transition at cDNA nucleotide 1024 resulting in a leu-to-phe substitution. Chiu et al. (1993) listed the biochemical characteristics of G6PD Mahidol-like.

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

Last Updated: Nov 3, 2024