rs386134159

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
google	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.