rs137852633

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a dopa-responsive dystonia mutation
(G;G)	4	dystonia due to autosomal recessive GCH1 mutation

Reference

GRCh38 38.1/141

Chromosome

14

Position

54845799

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs137852633
dbSNP (classic)	rs137852633
ClinGen	rs137852633
ebi	rs137852633
HLI	rs137852633
Exac	rs137852633
Gnomad	rs137852633
Varsome	rs137852633
LitVar	rs137852633
Map	rs137852633
PheGenI	rs137852633
Biobank	rs137852633
1000 genomes	rs137852633
hgdp	rs137852633
ensembl	rs137852633
geneview	rs137852633
scholar	rs137852633
google	rs137852633
pharmgkb	rs137852633
gwascentral	rs137852633
openSNP	rs137852633
23andMe	rs137852633
SNPshot	rs137852633
SNPdbe	rs137852633
MSV3d	rs137852633
GWAS Ctlg	rs137852633

Max Magnitude

4

c.595C>G (p.Pro199Ala)

23andMe name: i5000643

OMIM	600225
Desc
Variant	0022
Related	also

ClinVar
Risk	Rs137852633(G;G)
Alt	Rs137852633(G;G)
Reference	Rs137852633(C;C)
Significance	Pathogenic
Disease	Dystonia
Variation	info
Gene	GCH1
CLNDBN	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Reversed	1
HGVS	NC_000014.8:g.55312517G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009875.3,