rs104894434

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

54844108

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894434
dbSNP (classic)	rs104894434
ClinGen	rs104894434
ebi	rs104894434
HLI	rs104894434
Exac	rs104894434
Gnomad	rs104894434
Varsome	rs104894434
LitVar	rs104894434
Map	rs104894434
PheGenI	rs104894434
Biobank	rs104894434
1000 genomes	rs104894434
hgdp	rs104894434
ensembl	rs104894434
geneview	rs104894434
scholar	rs104894434
google	rs104894434
pharmgkb	rs104894434
gwascentral	rs104894434
openSNP	rs104894434
23andMe	rs104894434
SNPshot	rs104894434
SNPdbe	rs104894434
MSV3d	rs104894434
GWAS Ctlg	rs104894434

Max Magnitude

4

c.662T>C (p.Met221Thr)

23andMe name: i5000652

OMIM	600225
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs104894434(C;C)
Alt	Rs104894434(C;C)
Reference	Rs104894434(T;T)
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.55310826A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009863.3,