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rs199476112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 Leber's Optic Atrophy
(G;G) 0 common in clinvar
Make rs199476112(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position11778
GeneMT-ND4
is asnp
is mentioned by
dbSNPrs199476112
ebirs199476112
HLIrs199476112
Exacrs199476112
Varsomers199476112
Maprs199476112
PheGenIrs199476112
hapmaprs199476112
1000 genomesrs199476112
hgdprs199476112
ensemblrs199476112
gopubmedrs199476112
geneviewrs199476112
scholarrs199476112
googlers199476112
pharmgkbrs199476112
gwascentralrs199476112
openSNPrs199476112
23andMers199476112
23andMe allrs199476112
SNP Nexus

SNPshotrs199476112
SNPdbers199476112
MSV3drs199476112
GWAS Ctlgrs199476112
Max Magnitude4

rs199476112, also known as m.11778G>A, Arg340His and R340H, is a mutation in the mitochondrial ND4 MT-ND4 gene.

This is considered to be the most common mutation in patients with Leber's optic atrophy; about 69% of all such patients carry the rs199476112(A) mutation. The penetrance is estimated to be 33-60% among relatives, and 82% in males.MitoMap

See also OMIM 516003.0001

http://LHON.org

http://UMDF.org


ClinVar
Risk rs199476112(A;A)
Alt rs199476112(A;A)
Reference rs199476112(G;G)
Significance Pathogenic
Disease Leber's optic atrophy not provided
Variation info
Gene ND4
CLNDBN Leber's optic atrophy not provided
Reversed 0
HGVS NC_012920.1:m.11778G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010354.2, RCV000224219.1,