rs386134170

Orientation

plus

Stabilized

plus

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

Make rs386134170(GC;TT)

Make rs386134170(TT;TT)

Reference

GRCh38 38.1/141

Chromosome

19

Position

53889937

Gene

PRKCG

is a	snp
is	mentioned by
dbSNP	rs386134170
dbSNP (classic)	rs386134170
ClinGen	rs386134170
ebi	rs386134170
HLI	rs386134170
Exac	rs386134170
Gnomad	rs386134170
Varsome	rs386134170
LitVar	rs386134170
Map	rs386134170
PheGenI	rs386134170
Biobank	rs386134170
1000 genomes	rs386134170
hgdp	rs386134170
ensembl	rs386134170
geneview	rs386134170
scholar	rs386134170
google	rs386134170
pharmgkb	rs386134170
gwascentral	rs386134170
openSNP	rs386134170
23andMe	rs386134170
SNPshot	rs386134170
SNPdbe	rs386134170
MSV3d	rs386134170
GWAS Ctlg	rs386134170

Max Magnitude

0

ClinVar
Risk	rs386134170(TT;TT)
Alt	rs386134170(TT;TT)
Reference	Rs386134170(GC;GC)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 14
Variation	info
Gene	PRKCG
CLNDBN	Spinocerebellar ataxia 14
Reversed	0
HGVS	NC_000019.9:g.54393191_54393192delGCinsTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034997.1,

[PMID 16291902] Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.