rs386134165

Orientation

plus

Stabilized

plus

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

Make rs386134165(A;A)

Make rs386134165(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

53889720

Gene

PRKCG

is a	snp
is	mentioned by
dbSNP	rs386134165
dbSNP (classic)	rs386134165
ClinGen	rs386134165
ebi	rs386134165
HLI	rs386134165
Exac	rs386134165
Gnomad	rs386134165
Varsome	rs386134165
LitVar	rs386134165
Map	rs386134165
PheGenI	rs386134165
Biobank	rs386134165
1000 genomes	rs386134165
hgdp	rs386134165
ensembl	rs386134165
geneview	rs386134165
scholar	rs386134165
google	rs386134165
pharmgkb	rs386134165
gwascentral	rs386134165
openSNP	rs386134165
23andMe	rs386134165
SNPshot	rs386134165
SNPdbe	rs386134165
MSV3d	rs386134165
GWAS Ctlg	rs386134165

Max Magnitude

0

ClinVar
Risk	rs386134165(A;A)
Alt	rs386134165(A;A)
Reference	Rs386134165(G;G)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 14
Variation	info
Gene	PRKCG
CLNDBN	Spinocerebellar ataxia 14
Reversed	0
HGVS	NC_000019.9:g.54392974G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034992.1,

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