rs104894444
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 4.4 | dystonia due on GCH1 loss-of-function mutation |
| Make rs104894444(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 54902522 |
| Gene | GCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894444 |
| dbSNP (classic) | rs104894444 |
| ClinGen | rs104894444 |
| ebi | rs104894444 |
| HLI | rs104894444 |
| Exac | rs104894444 |
| Gnomad | rs104894444 |
| Varsome | rs104894444 |
| LitVar | rs104894444 |
| Map | rs104894444 |
| PheGenI | rs104894444 |
| Biobank | rs104894444 |
| 1000 genomes | rs104894444 |
| hgdp | rs104894444 |
| ensembl | rs104894444 |
| geneview | rs104894444 |
| scholar | rs104894444 |
| rs104894444 | |
| pharmgkb | rs104894444 |
| gwascentral | rs104894444 |
| openSNP | rs104894444 |
| 23andMe | rs104894444 |
| SNPshot | rs104894444 |
| SNPdbe | rs104894444 |
| MSV3d | rs104894444 |
| GWAS Ctlg | rs104894444 |
| Max Magnitude | 4.4 |
aka c.142C>T (p.Gln48Ter, Q48X or Q48*)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Dystonia 5, Dopa-responsive type. However, note that OMIM indicates some individuals carrying this mutation are reported to be asymptomatic.
See also OMIM 600225.0018
| ClinVar | |
|---|---|
| Risk | rs104894444(T;T) |
| Alt | rs104894444(T;T) |
| Reference | Rs104894444(C;C) |
| Significance | Pathogenic |
| Disease | Dystonia 5 |
| Variation | info |
| Gene | GCH1 |
| CLNDBN | Dystonia 5, Dopa-responsive type |
| Reversed | 1 |
| HGVS | NC_000014.8:g.55369240G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009871.2, |
