rs190834116
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 8.8 | Methylmalonic aciduria (predicted) |
| (C;G) | 3 | Carrier for a methylmalonic aciduria mutation |
| (G;G) | 0 | common in clinvar |
| Make rs190834116(A;A) |
| Make rs190834116(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 49459183 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs190834116 |
| dbSNP (classic) | rs190834116 |
| ClinGen | rs190834116 |
| ebi | rs190834116 |
| HLI | rs190834116 |
| Exac | rs190834116 |
| Gnomad | rs190834116 |
| Varsome | rs190834116 |
| LitVar | rs190834116 |
| Map | rs190834116 |
| PheGenI | rs190834116 |
| Biobank | rs190834116 |
| 1000 genomes | rs190834116 |
| hgdp | rs190834116 |
| ensembl | rs190834116 |
| geneview | rs190834116 |
| scholar | rs190834116 |
| rs190834116 | |
| pharmgkb | rs190834116 |
| gwascentral | rs190834116 |
| openSNP | rs190834116 |
| 23andMe | rs190834116 |
| SNPshot | rs190834116 |
| SNPdbe | rs190834116 |
| MSV3d | rs190834116 |
| GWAS Ctlg | rs190834116 |
| Max Magnitude | 8.8 |
Pathogenic variant is also known as c.284C>G (p.Pro95Arg); note that c.284C>T (p.Pro95Leu) is a variant of uncertain significance according to ClinVar.
| ClinVar | |
|---|---|
| Risk | rs190834116(A;A) Rs190834116(C;C) |
| Alt | rs190834116(A;A) Rs190834116(C;C) |
| Reference | Rs190834116(G;G) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Variation | info |
| Gene | MUT |
| CLNDBN | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.49426896G>A; NC_000006.11:g.49426896G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000415260.1, RCV000203360.1, |
