rs386134169
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs386134169(A;A) |
| Make rs386134169(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 53889905 |
| Gene | PRKCG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134169 |
| dbSNP (classic) | rs386134169 |
| ClinGen | rs386134169 |
| ebi | rs386134169 |
| HLI | rs386134169 |
| Exac | rs386134169 |
| Gnomad | rs386134169 |
| Varsome | rs386134169 |
| LitVar | rs386134169 |
| Map | rs386134169 |
| PheGenI | rs386134169 |
| Biobank | rs386134169 |
| 1000 genomes | rs386134169 |
| hgdp | rs386134169 |
| ensembl | rs386134169 |
| geneview | rs386134169 |
| scholar | rs386134169 |
| rs386134169 | |
| pharmgkb | rs386134169 |
| gwascentral | rs386134169 |
| openSNP | rs386134169 |
| 23andMe | rs386134169 |
| SNPshot | rs386134169 |
| SNPdbe | rs386134169 |
| MSV3d | rs386134169 |
| GWAS Ctlg | rs386134169 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386134169(A;A) |
| Alt | rs386134169(A;A) |
| Reference | Rs386134169(C;C) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia 14 |
| Variation | info |
| Gene | PRKCG |
| CLNDBN | Spinocerebellar ataxia 14 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.54393159C>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034998.2, |
[PMID 21434874] SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
