rs386134166
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs386134166(C;C) |
| Make rs386134166(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 53889743 |
| Gene | PRKCG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134166 |
| dbSNP (classic) | rs386134166 |
| ClinGen | rs386134166 |
| ebi | rs386134166 |
| HLI | rs386134166 |
| Exac | rs386134166 |
| Gnomad | rs386134166 |
| Varsome | rs386134166 |
| LitVar | rs386134166 |
| Map | rs386134166 |
| PheGenI | rs386134166 |
| Biobank | rs386134166 |
| 1000 genomes | rs386134166 |
| hgdp | rs386134166 |
| ensembl | rs386134166 |
| geneview | rs386134166 |
| scholar | rs386134166 |
| rs386134166 | |
| pharmgkb | rs386134166 |
| gwascentral | rs386134166 |
| openSNP | rs386134166 |
| 23andMe | rs386134166 |
| SNPshot | rs386134166 |
| SNPdbe | rs386134166 |
| MSV3d | rs386134166 |
| GWAS Ctlg | rs386134166 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386134166(A;A) rs386134166(C;C) |
| Alt | rs386134166(A;A) rs386134166(C;C) |
| Reference | Rs386134166(T;T) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia 14 |
| Variation | info |
| Gene | PRKCG |
| CLNDBN | Spinocerebellar ataxia 14 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.54392997T>C |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034993.2, |
[PMID 16649092] Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
