rs121918517
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | spinocerebellar ataxia 14 possible |
Make rs121918517(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53898100 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs121918517 |
dbSNP (classic) | rs121918517 |
ClinGen | rs121918517 |
ebi | rs121918517 |
HLI | rs121918517 |
Exac | rs121918517 |
Gnomad | rs121918517 |
Varsome | rs121918517 |
LitVar | rs121918517 |
Map | rs121918517 |
PheGenI | rs121918517 |
Biobank | rs121918517 |
1000 genomes | rs121918517 |
hgdp | rs121918517 |
ensembl | rs121918517 |
geneview | rs121918517 |
scholar | rs121918517 |
rs121918517 | |
pharmgkb | rs121918517 |
gwascentral | rs121918517 |
openSNP | rs121918517 |
23andMe | rs121918517 |
SNPshot | rs121918517 |
SNPdbe | rs121918517 |
MSV3d | rs121918517 |
GWAS Ctlg | rs121918517 |
Max Magnitude | 5 |
rs121908517, also known as c.1081A>G, p.Ser361Gly or S361G, is a SNP in the PRKCG gene on chromosome 19.
Based on one publication, the rare rs121908517(G) allele is reported to lead in a dominant manner to spinocerebellar ataxia, type 14. See OMIM or ClinVar for details.
ClinVar | |
---|---|
Risk | rs121918517(G;G) |
Alt | rs121918517(G;G) |
Reference | Rs121918517(A;A) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54401354A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014155.27, |
[PMID 15824357] The clinical and genetic spectrum of spinocerebellar ataxia 14.