rs121918511

Orientation

plus

Stabilized

plus

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

Make rs121918511(C;T)

Make rs121918511(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

53889653

Gene

PRKCG

is a	snp
is	mentioned by
dbSNP	rs121918511
dbSNP (classic)	rs121918511
ClinGen	rs121918511
ebi	rs121918511
HLI	rs121918511
Exac	rs121918511
Gnomad	rs121918511
Varsome	rs121918511
LitVar	rs121918511
Map	rs121918511
PheGenI	rs121918511
Biobank	rs121918511
1000 genomes	rs121918511
hgdp	rs121918511
ensembl	rs121918511
geneview	rs121918511
scholar	rs121918511
google	rs121918511
pharmgkb	rs121918511
gwascentral	rs121918511
openSNP	rs121918511
23andMe	rs121918511
SNPshot	rs121918511
SNPdbe	rs121918511
MSV3d	rs121918511
GWAS Ctlg	rs121918511

Max Magnitude

0

OMIM	176980
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918511(T;T)
Alt	rs121918511(T;T)
Reference	Rs121918511(C;C)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 14
Variation	info
Gene	PRKCG
CLNDBN	Spinocerebellar ataxia 14
Reversed	0
HGVS	NC_000019.9:g.54392907C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014149.25,

[PMID 12644968] Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

[PMID 17659643] Codon 101 of PRKCG, a preferential mutation site in SCA14.