rs199476118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 4 | Leber's Optic Atrophy |
(G;G) | 0 | common in clinvar |
Make rs199476118(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3460 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs199476118 |
dbSNP (classic) | rs199476118 |
ClinGen | rs199476118 |
ebi | rs199476118 |
HLI | rs199476118 |
Exac | rs199476118 |
Gnomad | rs199476118 |
Varsome | rs199476118 |
LitVar | rs199476118 |
Map | rs199476118 |
PheGenI | rs199476118 |
Biobank | rs199476118 |
1000 genomes | rs199476118 |
hgdp | rs199476118 |
ensembl | rs199476118 |
geneview | rs199476118 |
scholar | rs199476118 |
rs199476118 | |
pharmgkb | rs199476118 |
gwascentral | rs199476118 |
openSNP | rs199476118 |
23andMe | rs199476118 |
SNPshot | rs199476118 |
SNPdbe | rs199476118 |
MSV3d | rs199476118 |
GWAS Ctlg | rs199476118 |
Max Magnitude | 4 |
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, |