rs386134159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386134159(G;T) |
Make rs386134159(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53883180 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs386134159 |
dbSNP (classic) | rs386134159 |
ClinGen | rs386134159 |
ebi | rs386134159 |
HLI | rs386134159 |
Exac | rs386134159 |
Gnomad | rs386134159 |
Varsome | rs386134159 |
LitVar | rs386134159 |
Map | rs386134159 |
PheGenI | rs386134159 |
Biobank | rs386134159 |
1000 genomes | rs386134159 |
hgdp | rs386134159 |
ensembl | rs386134159 |
geneview | rs386134159 |
scholar | rs386134159 |
rs386134159 | |
pharmgkb | rs386134159 |
gwascentral | rs386134159 |
openSNP | rs386134159 |
23andMe | rs386134159 |
SNPshot | rs386134159 |
SNPdbe | rs386134159 |
MSV3d | rs386134159 |
GWAS Ctlg | rs386134159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134159(T;T) |
Alt | rs386134159(T;T) |
Reference | Rs386134159(G;G) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | PRKCG |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54386434G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034967.1, |
[PMID 17149711] Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.