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

rs80358233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Torsion dystonia
(-;GAG) 7 Torsion dystonia
(GAG;GAG) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position129814065
GeneTOR1A
is asnp
is mentioned by
dbSNPrs80358233
ebirs80358233
HLIrs80358233
Exacrs80358233
Varsomers80358233
Maprs80358233
PheGenIrs80358233
hapmaprs80358233
1000 genomesrs80358233
hgdprs80358233
ensemblrs80358233
gopubmedrs80358233
geneviewrs80358233
scholarrs80358233
googlers80358233
pharmgkbrs80358233
gwascentralrs80358233
openSNPrs80358233
23andMers80358233
23andMe allrs80358233
SNP Nexus

SNPshotrs80358233
SNPdbers80358233
MSV3drs80358233
GWAS Ctlgrs80358233
Max Magnitude7

rs80358233, also known as deltaE302, is a mutation in the TOR1A gene. Note that this gene may also be known as the DYT1 gene.

The risk allele rs80358233(-), i.e. the deletion, can be inherited as an autosomal dominant such that one copy is sufficient to cause torsion dystonia. However, more than half of carriers of such mutations don't exhibit symptoms, for reasons that remain unclear. However, the vast majority of cases that are diagnosed are associated with this (deltaE302) mutation, and it is a mutation most associated with Ashkenazi Jews.

OMIM605204
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358233(;)
Alt rs80358233(;)
Reference rs80358233(GAG;GAG)
Significance Pathogenic
Disease Dystonia 1 Dystonia
Variation info
Gene TOR1A
CLNDBN Dystonia 1 Dystonia
Reversed 1
HGVS NC_000009.11:g.132576341_132576343delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005488.4, RCV000227741.1,


[PMID 108147] The response of a prostaglandin synthase preparation to the concentration of arachidonic acid [proceedings].


[PMID 9288096] The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.


[PMID 12975293] Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.


[PMID 14711988OA-icon.png] Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.


[PMID 16364897] Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.


[PMID 16682692] Stiff child syndrome with mutation of DYT1 gene.