PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
Disease: Dyskinetic syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907128
rs387907128
Entrez Id: 112476;112268170
Gene Symbol: PRRT2;LOC112268170
PRRT2;LOC112268170
CUI: C0013384
Disease:
Dyskinetic syndrome 		0.010 GeneticVariation BEFREE The c.649_650InsC (p.P217fsX7) mutation was identified in two of these families, whereas a missense mutation, c.796C>T (R266W), was identified in another family with paroxysmal kinesigenic dyskinesias. 22120146 2011