rs41298442

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	4.5	Dopa-responsive dystonia (dominant) mutation
(G;G)	5	Dystonia (dopa-responsive) from homozygous GCH1 mutation

Reference

GRCh38 38.1/142

Chromosome

14

Position

54844099

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs41298442
dbSNP (classic)	rs41298442
ClinGen	rs41298442
ebi	rs41298442
HLI	rs41298442
Exac	rs41298442
Gnomad	rs41298442
Varsome	rs41298442
LitVar	rs41298442
Map	rs41298442
PheGenI	rs41298442
Biobank	rs41298442
1000 genomes	rs41298442
hgdp	rs41298442
ensembl	rs41298442
geneview	rs41298442
scholar	rs41298442
google	rs41298442
pharmgkb	rs41298442
gwascentral	rs41298442
openSNP	rs41298442
23andMe	rs41298442
SNPshot	rs41298442
SNPdbe	rs41298442
MSV3d	rs41298442
GWAS Ctlg	rs41298442

GMAF

0.0004591

Max Magnitude

5

Also known as c.671A>G, Lys224Arg or K224R; the G allele is associated with Dopa-Responsive Dystonia.

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. [PMID 9667588]

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.[PMID 8852666]

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.[PMID 12391354]

OMIM	600225
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs41298442(G;G)
Alt	Rs41298442(G;G)
Reference	Rs41298442(A;A)
Significance	Pathogenic
Disease	Dystonia 5 Dystonia
Variation	info
Gene	GCH1
CLNDBN	Dystonia 5, Dopa-responsive type Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Reversed	1
HGVS	NC_000014.8:g.55310817T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009865.5, RCV000009866.5,