rs121918512
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918512(C;C) |
Make rs121918512(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53889707 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs121918512 |
dbSNP (classic) | rs121918512 |
ClinGen | rs121918512 |
ebi | rs121918512 |
HLI | rs121918512 |
Exac | rs121918512 |
Gnomad | rs121918512 |
Varsome | rs121918512 |
LitVar | rs121918512 |
Map | rs121918512 |
PheGenI | rs121918512 |
Biobank | rs121918512 |
1000 genomes | rs121918512 |
hgdp | rs121918512 |
ensembl | rs121918512 |
geneview | rs121918512 |
scholar | rs121918512 |
rs121918512 | |
pharmgkb | rs121918512 |
gwascentral | rs121918512 |
openSNP | rs121918512 |
23andMe | rs121918512 |
SNPshot | rs121918512 |
SNPdbe | rs121918512 |
MSV3d | rs121918512 |
GWAS Ctlg | rs121918512 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918512(C;C) |
Alt | rs121918512(C;C) |
Reference | Rs121918512(T;T) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54392961T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014150.26, |
[PMID 12644968] Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.