Have questions? Visit https://www.reddit.com/r/SNPedia

rs886039379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AT) 6 Dystonia, dopa-responsive
(AT;AT) 0 common in clinvar


Make rs886039379(-;-)
ReferenceGRCh38.p7 38.3/149
Chromosome14
Position54844138
GeneGCH1
is asnp
is mentioned by
dbSNPrs886039379
dbSNP (classic)rs886039379
ClinGenrs886039379
ebirs886039379
HLIrs886039379
Exacrs886039379
Gnomadrs886039379
Varsomers886039379
LitVarrs886039379
Maprs886039379
PheGenIrs886039379
Biobankrs886039379
1000 genomesrs886039379
hgdprs886039379
ensemblrs886039379
geneviewrs886039379
scholarrs886039379
googlers886039379
pharmgkbrs886039379
gwascentralrs886039379
openSNPrs886039379
23andMers886039379
23andMe allrs886039379
SNPshotrs886039379
SNPdbers886039379
MSV3drs886039379
GWAS Ctlgrs886039379
Max Magnitude6

aka c.631_632delAT (p.Met211Valfs)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dopa-responsive dystonia.


ClinVar
Risk rs886039379(-;-)
Alt rs886039379(-;-)
Reference Rs886039379(AT;AT)
Significance Pathogenic
Disease not provided
Variation info
Gene GCH1
CLNDBN not provided
Reversed 1
HGVS NC_000014.8:g.55310856_55310857delAT
CLNSRC
CLNACC RCV000255238.1,