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rs41298442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 4 dystonia due to autosomal recessive GCH1 mutation
Make rs41298442(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position54844099
GeneGCH1
is asnp
is mentioned by
dbSNPrs41298442
ebirs41298442
HLIrs41298442
Exacrs41298442
Varsomers41298442
Maprs41298442
PheGenIrs41298442
hapmaprs41298442
1000 genomesrs41298442
hgdprs41298442
ensemblrs41298442
gopubmedrs41298442
geneviewrs41298442
scholarrs41298442
googlers41298442
pharmgkbrs41298442
gwascentralrs41298442
openSNPrs41298442
23andMers41298442
23andMe allrs41298442
SNP Nexus

SNPshotrs41298442
SNPdbers41298442
MSV3drs41298442
GWAS Ctlgrs41298442
GMAF0.0004591
Max Magnitude4
Also known as Lys224Arg, 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]

OMIM600225
Desc
Variant0013
Relatedalso


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
CLNACC RCV000009865.5, RCV000009866.5,