PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Infantile Severe Myoclonic Epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0751122
Disease:
Infantile Severe Myoclonic Epilepsy 		0.010 GeneticVariation BEFREE A novel PCDH19 p.D377N mutation was identified in one SCN1A-negative female patient with Dravet syndrome and a known PCDH19 p.N340S mutation in a female non-Dravet syndrome patient. 22848613 2012