rs121918514
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121918514(A;A) |
| Make rs121918514(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 53889705 |
| Gene | PRKCG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918514 |
| dbSNP (classic) | rs121918514 |
| ClinGen | rs121918514 |
| ebi | rs121918514 |
| HLI | rs121918514 |
| Exac | rs121918514 |
| Gnomad | rs121918514 |
| Varsome | rs121918514 |
| LitVar | rs121918514 |
| Map | rs121918514 |
| PheGenI | rs121918514 |
| Biobank | rs121918514 |
| 1000 genomes | rs121918514 |
| hgdp | rs121918514 |
| ensembl | rs121918514 |
| geneview | rs121918514 |
| scholar | rs121918514 |
| rs121918514 | |
| pharmgkb | rs121918514 |
| gwascentral | rs121918514 |
| openSNP | rs121918514 |
| 23andMe | rs121918514 |
| SNPshot | rs121918514 |
| SNPdbe | rs121918514 |
| MSV3d | rs121918514 |
| GWAS Ctlg | rs121918514 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918514(A;A) |
| Alt | rs121918514(A;A) |
| Reference | Rs121918514(G;G) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia 14 |
| Variation | info |
| Gene | PRKCG |
| CLNDBN | Spinocerebellar ataxia 14 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.54392959G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014152.26, |
[PMID 14694043] Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
[PMID 15841389] Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
[PMID 17343273] PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.
