rs864309483

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Dyskinesia, familial, with facial myokymia

Make rs864309483(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

123352464

Gene

ADCY5

is a	snp
is	mentioned by
dbSNP	rs864309483
dbSNP (classic)	rs864309483
ClinGen	rs864309483
ebi	rs864309483
HLI	rs864309483
Exac	rs864309483
Gnomad	rs864309483
Varsome	rs864309483
LitVar	rs864309483
Map	rs864309483
PheGenI	rs864309483
Biobank	rs864309483
1000 genomes	rs864309483
hgdp	rs864309483
ensembl	rs864309483
geneview	rs864309483
scholar	rs864309483
google	rs864309483
pharmgkb	rs864309483
gwascentral	rs864309483
openSNP	rs864309483
23andMe	rs864309483
SNPshot	rs864309483
SNPdbe	rs864309483
MSV3d	rs864309483
GWAS Ctlg	rs864309483

Max Magnitude

6

aka c.1252C>T (p.Arg418Trp or R418W)

considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant familial dyskinesia, with facial myokymia

see also OMIM 600293.0002

ClinVar
Risk	rs864309483(T;T)
Alt	rs864309483(T;T)
Reference	Rs864309483(C;C)
Significance	Pathogenic
Disease	Dyskinesia not provided
Variation	info
Gene	ADCY5
CLNDBN	Dyskinesia, familial, with facial myokymia not provided
Reversed	1
HGVS	NC_000003.11:g.123071311G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000202545.2, RCV000255111.1,