rs121918513
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121918513(A;A) |
| Make rs121918513(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 53889735 |
| Gene | PRKCG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918513 |
| dbSNP (classic) | rs121918513 |
| ClinGen | rs121918513 |
| ebi | rs121918513 |
| HLI | rs121918513 |
| Exac | rs121918513 |
| Gnomad | rs121918513 |
| Varsome | rs121918513 |
| LitVar | rs121918513 |
| Map | rs121918513 |
| PheGenI | rs121918513 |
| Biobank | rs121918513 |
| 1000 genomes | rs121918513 |
| hgdp | rs121918513 |
| ensembl | rs121918513 |
| geneview | rs121918513 |
| scholar | rs121918513 |
| rs121918513 | |
| pharmgkb | rs121918513 |
| gwascentral | rs121918513 |
| openSNP | rs121918513 |
| 23andMe | rs121918513 |
| SNPshot | rs121918513 |
| SNPdbe | rs121918513 |
| MSV3d | rs121918513 |
| GWAS Ctlg | rs121918513 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918513(A;A) |
| Alt | rs121918513(A;A) |
| Reference | Rs121918513(G;G) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia 14 |
| Variation | info |
| Gene | PRKCG |
| CLNDBN | Spinocerebellar ataxia 14 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.54392989G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014151.26, |
[PMID 12644968
] Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
[PMID 17024314] A Japanese case of SCA14 with the Gly128Asp mutation.
[PMID 18986758] Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.
