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rs199476104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 Leber's Optic Atrophy
(T;T) 0 common in clinvar
Make rs199476104(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position14484
GeneMT-ND6
is asnp
is mentioned by
dbSNPrs199476104
ebirs199476104
HLIrs199476104
Exacrs199476104
Varsomers199476104
Maprs199476104
PheGenIrs199476104
hapmaprs199476104
1000 genomesrs199476104
hgdprs199476104
ensemblrs199476104
gopubmedrs199476104
geneviewrs199476104
scholarrs199476104
googlers199476104
pharmgkbrs199476104
gwascentralrs199476104
openSNPrs199476104
23andMers199476104
23andMe allrs199476104
SNP Nexus

SNPshotrs199476104
SNPdbers199476104
MSV3drs199476104
GWAS Ctlgrs199476104
GMAF0.0009355
Max Magnitude4

rs199476104, also known as m.14484T>C, Met64Val and M64V, is a mutation in the mitochondrial ND6 MT-ND6 gene.

This is considered to be one of the three most common mutations in patients with Leber's optic atrophy; about 14% of all such patients carry the rs199476104(C) mutation. The penetrance is estimated to be 27-80% among relatives, and 68% in males.MitoMap

See also OMIM 516006.0001

23andMe makes up their own name for this SNP: i4000834.

ClinVar
Risk rs199476104(C;C)
Alt rs199476104(C;C)
Reference rs199476104(T;T)
Significance Pathogenic
Disease Leber's optic atrophy Leigh syndrome not provided
Variation info
Gene ND6
CLNDBN Leber's optic atrophy Leigh syndrome not provided
Reversed 0
HGVS NC_012920.1:m.14484T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010325.5, RCV000144018.2, RCV000223709.1,