rs104894442

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

54844023

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894442
dbSNP (classic)	rs104894442
ClinGen	rs104894442
ebi	rs104894442
HLI	rs104894442
Exac	rs104894442
Gnomad	rs104894442
Varsome	rs104894442
LitVar	rs104894442
Map	rs104894442
PheGenI	rs104894442
Biobank	rs104894442
1000 genomes	rs104894442
hgdp	rs104894442
ensembl	rs104894442
geneview	rs104894442
scholar	rs104894442
google	rs104894442
pharmgkb	rs104894442
gwascentral	rs104894442
openSNP	rs104894442
23andMe	rs104894442
SNPshot	rs104894442
SNPdbe	rs104894442
MSV3d	rs104894442
GWAS Ctlg	rs104894442

Max Magnitude

4

OMIM	600225
Desc
Variant	0016
Related	also

ClinVar
Risk	Rs104894442(C;C)
Alt	Rs104894442(C;C)
Reference	Rs104894442(G;G)
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.55310741C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009869.2,