rs281865564

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;T)	3	Carrier of a progressive myoclonic epilepsy-1B mutation
(T;T)	0	common in clinvar

Make rs281865564(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

42464620

Gene

PRICKLE1

is a	snp
is	mentioned by
dbSNP	rs281865564
dbSNP (classic)	rs281865564
ClinGen	rs281865564
ebi	rs281865564
HLI	rs281865564
Exac	rs281865564
Gnomad	rs281865564
Varsome	rs281865564
LitVar	rs281865564
Map	rs281865564
PheGenI	rs281865564
Biobank	rs281865564
1000 genomes	rs281865564
hgdp	rs281865564
ensembl	rs281865564
geneview	rs281865564
scholar	rs281865564
google	rs281865564
pharmgkb	rs281865564
gwascentral	rs281865564
openSNP	rs281865564
23andMe	rs281865564
SNPshot	rs281865564
SNPdbe	rs281865564
MSV3d	rs281865564
GWAS Ctlg	rs281865564

Max Magnitude

3

aka c.1414T>C (p.Tyr472His or Y472H)

ClinVar
Risk	rs281865564(C;C)
Alt	rs281865564(C;C)
Reference	Rs281865564(T;T)
Significance	Pathogenic
Disease	Progressive myoclonus epilepsy with ataxia
Variation	info
Gene	PRICKLE1
CLNDBN	Progressive myoclonus epilepsy with ataxia
Reversed	1
HGVS	NC_000012.11:g.42858422A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023708.5,