rs886039379

minus

Geno	Mag	Summary
(-;AT)	6	Dystonia, dopa-responsive
(AT;AT)	0	common in clinvar

Make rs886039379(-;-)

Reference

GRCh38.p7 38.3/149

Chromosome

14

Position

54844138

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs886039379
dbSNP (classic)	rs886039379
ClinGen	rs886039379
ebi	rs886039379
HLI	rs886039379
Exac	rs886039379
Gnomad	rs886039379
Varsome	rs886039379
LitVar	rs886039379
Map	rs886039379
PheGenI	rs886039379
Biobank	rs886039379
1000 genomes	rs886039379
hgdp	rs886039379
ensembl	rs886039379
geneview	rs886039379
scholar	rs886039379
google	rs886039379
pharmgkb	rs886039379
gwascentral	rs886039379
openSNP	rs886039379
23andMe	rs886039379
SNPshot	rs886039379
SNPdbe	rs886039379
MSV3d	rs886039379
GWAS Ctlg	rs886039379

Max Magnitude

6

aka c.631_632delAT (p.Met211Valfs)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dopa-responsive dystonia.

ClinVar
Risk	rs886039379(-;-)
Alt	rs886039379(-;-)
Reference	Rs886039379(AT;AT)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	GCH1
CLNDBN	not provided
Reversed	1
HGVS	NC_000014.8:g.55310856_55310857delAT
CLNSRC
CLNACC	RCV000255238.1,