TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Focal Dystonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502811
rs727502811
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0743332
Disease:
Focal Dystonia 		0.020 GeneticVariation BEFREE Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia. 24930953 2014
dbSNP: rs727502811
rs727502811
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0743332
Disease:
Focal Dystonia 		0.020 GeneticVariation BEFREE Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia. 19284587 2009