rs121918252
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier for a methylmalonic aciduria mutation |
| (T;T) | 8.8 | Methylmalonic aciduria (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 49431831 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918252 |
| dbSNP (classic) | rs121918252 |
| ClinGen | rs121918252 |
| ebi | rs121918252 |
| HLI | rs121918252 |
| Exac | rs121918252 |
| Gnomad | rs121918252 |
| Varsome | rs121918252 |
| LitVar | rs121918252 |
| Map | rs121918252 |
| PheGenI | rs121918252 |
| Biobank | rs121918252 |
| 1000 genomes | rs121918252 |
| hgdp | rs121918252 |
| ensembl | rs121918252 |
| geneview | rs121918252 |
| scholar | rs121918252 |
| rs121918252 | |
| pharmgkb | rs121918252 |
| gwascentral | rs121918252 |
| openSNP | rs121918252 |
| 23andMe | rs121918252 |
| SNPshot | rs121918252 |
| SNPdbe | rs121918252 |
| MSV3d | rs121918252 |
| GWAS Ctlg | rs121918252 |
| Max Magnitude | 8.8 |
aka c.2150G>T, p.Gly717Val, G717V; p.Gly717Val is reported to be observed in 41% of affected African Americans and Nigerians associated with a mut- phenotype.
23andMe name: i5000070
| ClinVar | |
|---|---|
| Risk | Rs121918252(T;T) |
| Alt | Rs121918252(T;T) |
| Reference | Rs121918252(G;G) |
| Significance | Pathogenic |
| Disease | METHYLMALONIC ACIDURIA not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Variation | info |
| Gene | MUT |
| CLNDBN | METHYLMALONIC ACIDURIA, mut(-) TYPE not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Reversed | 1 |
| HGVS | NC_000006.11:g.49399544C>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001958.2, RCV000078445.3, RCV000174456.2, |
