rs386134172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386134172(C;C) |
Make rs386134172(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 53906729 |
Gene | PRKCG |
is a | snp |
is | mentioned by |
dbSNP | rs386134172 |
dbSNP (classic) | rs386134172 |
ClinGen | rs386134172 |
ebi | rs386134172 |
HLI | rs386134172 |
Exac | rs386134172 |
Gnomad | rs386134172 |
Varsome | rs386134172 |
LitVar | rs386134172 |
Map | rs386134172 |
PheGenI | rs386134172 |
Biobank | rs386134172 |
1000 genomes | rs386134172 |
hgdp | rs386134172 |
ensembl | rs386134172 |
geneview | rs386134172 |
scholar | rs386134172 |
rs386134172 | |
pharmgkb | rs386134172 |
gwascentral | rs386134172 |
openSNP | rs386134172 |
23andMe | rs386134172 |
SNPshot | rs386134172 |
SNPdbe | rs386134172 |
MSV3d | rs386134172 |
GWAS Ctlg | rs386134172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134172(C;C) |
Alt | rs386134172(C;C) |
Reference | Rs386134172(T;T) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 14 |
Variation | info |
Gene | |
CLNDBN | Spinocerebellar ataxia 14 |
Reversed | 0 |
HGVS | NC_000019.9:g.54409983T>C |
CLNSRC | GeneReviews |
CLNACC | RCV000034969.1, |
[PMID 15313841] Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.