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, |
