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rs2229137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2229137(A;C)
Make rs2229137(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19357664
GenePDHA1
is asnp
is mentioned by
dbSNPrs2229137
ebirs2229137
HLIrs2229137
Exacrs2229137
Varsomers2229137
Maprs2229137
PheGenIrs2229137
hapmaprs2229137
1000 genomesrs2229137
hgdprs2229137
ensemblrs2229137
gopubmedrs2229137
geneviewrs2229137
scholarrs2229137
googlers2229137
pharmgkbrs2229137
gwascentralrs2229137
openSNPrs2229137
23andMers2229137
23andMe allrs2229137
SNP Nexus

SNPshotrs2229137
SNPdbers2229137
MSV3drs2229137
GWAS Ctlgrs2229137
Merged fromRs3810710
GMAF0.05865
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM300502
Desc
Variant0015
Relatedalso
ClinVar
Risk rs2229137(C;C)
Alt rs2229137(C;C)
Reference rs2229137(A;A)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency not specified not provided
Variation info
Gene PDHA1
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency not specified not provided
Reversed 0
HGVS NC_000023.10:g.19375782A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011632.6, RCV000127400.1, RCV000224670.1,


GET Evidence
PDHA1-M282L
aa_change Met282Leu
aa_change_short M282L
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.00125556
summary Claimed to cause X-linked pyruvate dehydrogenase deficiency (causing early onset severe encephalopathy and lactic acidosis) -- unusually in a female carrier who was hypothesized to be symptomatic due to X inactivation of the other, functional copy of the gene. However, this variant is very common in east asian ethnicities, strongly contradicting a pathogenic hypothesis.