rs121912707
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
| (G;G) | 0 | common in clinvar |
| Make rs121912707(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 126552059 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912707 |
| dbSNP (classic) | rs121912707 |
| ClinGen | rs121912707 |
| ebi | rs121912707 |
| HLI | rs121912707 |
| Exac | rs121912707 |
| Gnomad | rs121912707 |
| Varsome | rs121912707 |
| LitVar | rs121912707 |
| Map | rs121912707 |
| PheGenI | rs121912707 |
| Biobank | rs121912707 |
| 1000 genomes | rs121912707 |
| hgdp | rs121912707 |
| ensembl | rs121912707 |
| geneview | rs121912707 |
| scholar | rs121912707 |
| rs121912707 | |
| pharmgkb | rs121912707 |
| gwascentral | rs121912707 |
| openSNP | rs121912707 |
| 23andMe | rs121912707 |
| SNPshot | rs121912707 |
| SNPdbe | rs121912707 |
| MSV3d | rs121912707 |
| GWAS Ctlg | rs121912707 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
aka c.1279G>C (p.Glu427Gln or E427Q); also reported as p.Glu399Gln or E399Q
This mutation is reported to be among the most common ALDH7A1 gene mutations, which when recessively inherited may lead to pyridoxine-dependent epilepsy. See OMIM 107323.0001
| ClinVar | |
|---|---|
| Risk | rs121912707(C;C) |
| Alt | rs121912707(C;C) |
| Reference | Rs121912707(G;G) |
| Significance | Other |
| Disease | Pyridoxine-dependent epilepsy not provided |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | Pyridoxine-dependent epilepsy not provided |
| Reversed | 1 |
| HGVS | NC_000005.9:g.125887751C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019610.29, RCV000186744.3, |
