rs113994140

Orientation

minus

Stabilized

minus

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

Make rs113994140(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

42469523

Gene

PRICKLE1

is a	snp
is	mentioned by
dbSNP	rs113994140
dbSNP (classic)	rs113994140
ClinGen	rs113994140
ebi	rs113994140
HLI	rs113994140
Exac	rs113994140
Gnomad	rs113994140
Varsome	rs113994140
LitVar	rs113994140
Map	rs113994140
PheGenI	rs113994140
Biobank	rs113994140
1000 genomes	rs113994140
hgdp	rs113994140
ensembl	rs113994140
geneview	rs113994140
scholar	rs113994140
google	rs113994140
pharmgkb	rs113994140
gwascentral	rs113994140
openSNP	rs113994140
23andMe	rs113994140
SNPshot	rs113994140
SNPdbe	rs113994140
MSV3d	rs113994140
GWAS Ctlg	rs113994140

Max Magnitude

3

aka c.311G>A (p.Arg104Gln or R104Q)

OMIM	608500
Desc
Variant	0001
Related	also

ClinVar
Risk	rs113994140(A;A)
Alt	rs113994140(A;A)
Reference	Rs113994140(G;G)
Significance	Pathogenic
Disease	Progressive myoclonus epilepsy with ataxia not provided
Variation	info
Gene	PRICKLE1
CLNDBN	Progressive myoclonus epilepsy with ataxia not provided
Reversed	1
HGVS	NC_000012.11:g.42863325C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002373.3, RCV000431708.1,