rs121434369
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | Unaffected carrier of a glutaric acidemia type I mutation |
| (T;T) | 7 | glutaric acidemia type I |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12897824 |
| Gene | GCDH, SYCE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434369 |
| dbSNP (classic) | rs121434369 |
| ClinGen | rs121434369 |
| ebi | rs121434369 |
| HLI | rs121434369 |
| Exac | rs121434369 |
| Gnomad | rs121434369 |
| Varsome | rs121434369 |
| LitVar | rs121434369 |
| Map | rs121434369 |
| PheGenI | rs121434369 |
| Biobank | rs121434369 |
| 1000 genomes | rs121434369 |
| hgdp | rs121434369 |
| ensembl | rs121434369 |
| geneview | rs121434369 |
| scholar | rs121434369 |
| rs121434369 | |
| pharmgkb | rs121434369 |
| gwascentral | rs121434369 |
| openSNP | rs121434369 |
| 23andMe | rs121434369 |
| SNPshot | rs121434369 |
| SNPdbe | rs121434369 |
| MSV3d | rs121434369 |
| GWAS Ctlg | rs121434369 |
| Max Magnitude | 7 |
rs121434369, also known as R402W or Arg402Trp, is a mutation in the glutaryl-CoA dehydrogenase GCDH gene on chromosome 19.
The rare rs121434369(T) allele is reported to be the most common GCDH mutation in Caucasians.[PMID 10699052
] Since glutaric acidemia I disease is caused by homozygous or compound heterozygous mutation in the GCDH gene, this SNP is predicted to be the most common mutation associated with glutaric acidemia I.
| ClinVar | |
|---|---|
| Risk | Rs121434369(T;T) |
| Alt | Rs121434369(T;T) |
| Reference | Rs121434369(C;C) |
| Significance | Other |
| Disease | Glutaric aciduria not provided Glutaric acidemia |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 not provided Glutaric acidemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13008638C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002166.2, RCV000255833.1, RCV000333863.1, |
