rs113994167
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6.1 | VLCAD deficiency (predicted) |
| (C;T) | 3 | Carrier of a VLCAD deficiency mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7222272 |
| Gene | ACADVL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994167 |
| dbSNP (classic) | rs113994167 |
| ClinGen | rs113994167 |
| ebi | rs113994167 |
| HLI | rs113994167 |
| Exac | rs113994167 |
| Gnomad | rs113994167 |
| Varsome | rs113994167 |
| LitVar | rs113994167 |
| Map | rs113994167 |
| PheGenI | rs113994167 |
| Biobank | rs113994167 |
| 1000 genomes | rs113994167 |
| hgdp | rs113994167 |
| ensembl | rs113994167 |
| geneview | rs113994167 |
| scholar | rs113994167 |
| rs113994167 | |
| pharmgkb | rs113994167 |
| gwascentral | rs113994167 |
| openSNP | rs113994167 |
| 23andMe | rs113994167 |
| SNPshot | rs113994167 |
| SNPdbe | rs113994167 |
| MSV3d | rs113994167 |
| GWAS Ctlg | rs113994167 |
| Max Magnitude | 6.1 |
aka c.848T>C (p.Val283Ala or V283A)
See ACADVL; this variant is considered one of the most prevalent mutations associated with VLCAD deficiency.
| ClinVar | |
|---|---|
| Risk | Rs113994167(C;C) |
| Alt | Rs113994167(C;C) |
| Reference | Rs113994167(T;T) |
| Significance | Pathogenic |
| Disease | Very long chain acyl-CoA dehydrogenase deficiency not provided |
| Variation | info |
| Gene | ACADVL |
| CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7125591T>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000020081.3, RCV000077925.8, |
