rs199476112
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 4 | Leber's Optic Atrophy |
(G;G) | 0 | common in clinvar |
Make rs199476112(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 11778 |
Gene | ND4 |
is a | snp |
is | mentioned by |
dbSNP | rs199476112 |
dbSNP (classic) | rs199476112 |
ClinGen | rs199476112 |
ebi | rs199476112 |
HLI | rs199476112 |
Exac | rs199476112 |
Gnomad | rs199476112 |
Varsome | rs199476112 |
LitVar | rs199476112 |
Map | rs199476112 |
PheGenI | rs199476112 |
Biobank | rs199476112 |
1000 genomes | rs199476112 |
hgdp | rs199476112 |
ensembl | rs199476112 |
geneview | rs199476112 |
scholar | rs199476112 |
rs199476112 | |
pharmgkb | rs199476112 |
gwascentral | rs199476112 |
openSNP | rs199476112 |
23andMe | rs199476112 |
SNPshot | rs199476112 |
SNPdbe | rs199476112 |
MSV3d | rs199476112 |
GWAS Ctlg | rs199476112 |
Max Magnitude | 4 |
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
rs199476112 is at the location named i5000099 by 23andMe.
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, |