rs104894435

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

54902341

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894435
dbSNP (classic)	rs104894435
ClinGen	rs104894435
ebi	rs104894435
HLI	rs104894435
Exac	rs104894435
Gnomad	rs104894435
Varsome	rs104894435
LitVar	rs104894435
Map	rs104894435
PheGenI	rs104894435
Biobank	rs104894435
1000 genomes	rs104894435
hgdp	rs104894435
ensembl	rs104894435
geneview	rs104894435
scholar	rs104894435
google	rs104894435
pharmgkb	rs104894435
gwascentral	rs104894435
openSNP	rs104894435
23andMe	rs104894435
SNPshot	rs104894435
SNPdbe	rs104894435
MSV3d	rs104894435
GWAS Ctlg	rs104894435

Max Magnitude

4

OMIM	600225
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs104894435(A;A)
Alt	Rs104894435(A;A)
Reference	Rs104894435(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.55369059C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009864.3,