rs587778771

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;C)	5.8	Dystonia, type 10

Make rs587778771(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

29813703

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs587778771
dbSNP (classic)	rs587778771
ClinGen	rs587778771
ebi	rs587778771
HLI	rs587778771
Exac	rs587778771
Gnomad	rs587778771
Varsome	rs587778771
LitVar	rs587778771
Map	rs587778771
PheGenI	rs587778771
Biobank	rs587778771
1000 genomes	rs587778771
hgdp	rs587778771
ensembl	rs587778771
geneview	rs587778771
scholar	rs587778771
google	rs587778771
pharmgkb	rs587778771
gwascentral	rs587778771
openSNP	rs587778771
23andMe	rs587778771
SNPshot	rs587778771
SNPdbe	rs587778771
MSV3d	rs587778771
GWAS Ctlg	rs587778771

Max Magnitude

5.8

aka c.649dupC (p.Arg217Profs*8)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dystonia (type 10), also known as episodic kinesigenic dyskinesia-1 or paroxysmal kinesigenic dyskinesia

see also OMIM 614386.0001

ClinVar
Risk	rs587778771(C;C)
Alt	rs587778771(C;C)
Reference	Rs587778771(-;-)
Significance	Pathogenic
Disease	Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis not provided Seizures
Variation	info
Gene	LOC100289283 PRRT2
CLNDBN	Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis, familial not provided Seizures
Reversed	0
HGVS	NC_000016.9:g.29825024dupC
CLNSRC
CLNACC	RCV000055991.4, RCV000153783.3, RCV000188779.4, RCV000193894.1,