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rs199476118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 Leber's Optic Atrophy
(G;G) 0 common in clinvar
Make rs199476118(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position3460
GeneMT-ND1
is asnp
is mentioned by
dbSNPrs199476118
ebirs199476118
HLIrs199476118
Exacrs199476118
Varsomers199476118
Maprs199476118
PheGenIrs199476118
hapmaprs199476118
1000 genomesrs199476118
hgdprs199476118
ensemblrs199476118
gopubmedrs199476118
geneviewrs199476118
scholarrs199476118
googlers199476118
pharmgkbrs199476118
gwascentralrs199476118
openSNPrs199476118
23andMers199476118
23andMe allrs199476118
SNP Nexus

SNPshotrs199476118
SNPdbers199476118
MSV3drs199476118
GWAS Ctlgrs199476118
Max Magnitude4

rs199476118, also known as m.3460G>A, Ala52Thr and A52T, is a mutation in the mitochondrial ND1 MT-ND1 gene.

This is considered to be one of the three most common mutations in patients with Leber's optic atrophy; about 13% of all such patients carry the rs199476118(A) mutation. The penetrance is estimated to be 14-75% among relatives, and 40-80% in males.MitoMap

See also OMIM 516000.0001

ClinVar
Risk rs199476118(A;A)
Alt rs199476118(A;A)
Reference rs199476118(G;G)
Significance Pathogenic
Disease Leber's optic atrophy Mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene ND1
CLNDBN Leber's optic atrophy Mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.3460G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010370.4, RCV000010371.2, RCV000143998.2,