rs727502811, TOR1A

N. diseases: 6
Disease: Myoclonus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.010 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