PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Romano-Ward Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786204395
rs786204395 		1.000 0.120 12 32796150 frameshift variant GGTGTT/TTTC delins
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2010 2013