rs386134162

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs386134162(A;A)

Make rs386134162(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

53889693

Gene

PRKCG

is a	snp
is	mentioned by
dbSNP	rs386134162
dbSNP (classic)	rs386134162
ClinGen	rs386134162
ebi	rs386134162
HLI	rs386134162
Exac	rs386134162
Gnomad	rs386134162
Varsome	rs386134162
LitVar	rs386134162
Map	rs386134162
PheGenI	rs386134162
Biobank	rs386134162
1000 genomes	rs386134162
hgdp	rs386134162
ensembl	rs386134162
geneview	rs386134162
scholar	rs386134162
google	rs386134162
pharmgkb	rs386134162
gwascentral	rs386134162
openSNP	rs386134162
23andMe	rs386134162
SNPshot	rs386134162
SNPdbe	rs386134162
MSV3d	rs386134162
GWAS Ctlg	rs386134162

Max Magnitude

0

ClinVar
Risk	rs386134162(A;A)
Alt	rs386134162(A;A)
Reference	Rs386134162(G;G)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 14
Variation	info
Gene	PRKCG
CLNDBN	Spinocerebellar ataxia 14
Reversed	0
HGVS	NC_000019.9:g.54392947G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034988.2,

[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.