Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Thr50SerfsTer61 (p.T50Sfs*61)
(
ENST00000340811.9,
ENST00000546741.3,
ENST00000700563.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700559.2 )
PKP2 p.Thr50SerfsTer61 (p.T50Sfs*61) ( ENST00000340811.9, ENST00000546741.3, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 c.2489+1G>T ( ENST00000340811.9, ENST00000700558.2, ENST00000700559.2, ENST00000549461.3, ENST00000070846.11 )
PKP2 c.2489+1G>C ( ENST00000340811.9, ENST00000070846.11, ENST00000549461.3, ENST00000700559.2, ENST00000700558.2 )
PKP2 c.2489+1G>A ( ENST00000700559.2, ENST00000700558.2, ENST00000070846.11, ENST00000549461.3, ENST00000340811.9 )
PKP2 c.2146-1G>C ( ENST00000549461.3, ENST00000070846.11, ENST00000700559.2, ENST00000700558.2, ENST00000340811.9 )
PKP2 p.Trp676Ter (p.W676*) ( ENST00000070846.11, ENST00000700564.2, ENST00000549461.3, ENST00000700562.2, ENST00000700559.2, ENST00000700558.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 p.Trp538Ter (p.W538*) ( ENST00000700559.2, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 c.1378+1G>C ( ENST00000700559.2, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 p.Arg413Ter (p.R413*) ( ENST00000700563.2, ENST00000340811.9, ENST00000700559.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 p.Leu360Pro (p.L360P) ( ENST00000700563.2, ENST00000340811.9, ENST00000700559.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 c.2489+1G>T ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 c.2489+1G>C ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 c.2489+1G>A ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 c.2146-1G>C ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.Trp676Ter (p.W676*) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2, ENST00000700562.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Trp538Ter (p.W538*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 c.1378+1G>C ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Arg413Ter (p.R413*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Leu360Pro (p.L360P) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Ser329LysfsTer7 (p.S329Kfs*7)
PKP2 p.Ser329LysfsTer7 (p.S329Kfs*7) - Associated Disease
- Arrhythmogenic Right Ventricular Dysplasia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.163220184922405
- Year of publication
- NA
Drugs