rs104894445

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

54845843

Gene

GCH1

is a	snp
is	mentioned by
dbSNP	rs104894445
dbSNP (classic)	rs104894445
ClinGen	rs104894445
ebi	rs104894445
HLI	rs104894445
Exac	rs104894445
Gnomad	rs104894445
Varsome	rs104894445
LitVar	rs104894445
Map	rs104894445
PheGenI	rs104894445
Biobank	rs104894445
1000 genomes	rs104894445
hgdp	rs104894445
ensembl	rs104894445
geneview	rs104894445
scholar	rs104894445
google	rs104894445
pharmgkb	rs104894445
gwascentral	rs104894445
openSNP	rs104894445
23andMe	rs104894445
SNPshot	rs104894445
SNPdbe	rs104894445
MSV3d	rs104894445
GWAS Ctlg	rs104894445

Max Magnitude

4

c.551G>A (p.Arg184His)

23andMe name: i5000644

OMIM	600225
Desc
Variant	0020
Related	also

ClinVar
Risk	Rs104894445(A;A)
Alt	Rs104894445(A;A)
Reference	Rs104894445(G;G)
Significance	Pathogenic
Disease	GTP cyclohydrolase I deficiency
Variation	info
Gene	GCH1
CLNDBN	GTP cyclohydrolase I deficiency
Reversed	1
HGVS	NC_000014.8:g.55312561C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009873.6,