Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Thr851ArgfsTer80 (p.T851Rfs*80)
(
ENST00000340811.9,
ENST00000549461.3,
ENST00000070846.11,
ENST00000700558.2,
ENST00000700559.2 )
PKP2 p.Ser837ValfsTer94 (p.S837Vfs*94) ( ENST00000340811.9, ENST00000700558.2, ENST00000700559.2, ENST00000070846.11, ENST00000549461.3 )
PKP2 p.Val587AlafsTer69 (p.V587Afs*69) ( ENST00000070846.11, ENST00000700564.2, ENST00000700559.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 p.Val587SerfsTer69 (p.V587Sfs*69) ( ENST00000700559.2, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 p.Ala570ValfsTer7 (p.A570Vfs*7) ( ENST00000700559.2, ENST00000070846.11, ENST00000700564.2, ENST00000700563.2, ENST00000340811.9 )
PKP2 p.Gln457Ter (p.Q457*) ( ENST00000700564.2, ENST00000070846.11, ENST00000700559.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 p.Leu90ProfsTer21 (p.L90Pfs*21) ( ENST00000340811.9, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11, ENST00000700559.2 )
PKP2 p.Glu85MetfsTer26 (p.E85Mfs*26) ( ENST00000700563.2, ENST00000340811.9, ENST00000700559.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 p.Thr50SerfsTer61 (p.T50Sfs*61) ( ENST00000340811.9, ENST00000546741.3, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11, ENST00000700559.2 )
PKP2 p.Gly5AlafsTer34 (p.G5Afs*34) ( ENST00000340811.9, ENST00000546741.3, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11, ENST00000700559.2 )
PKP2 p.Thr851ArgfsTer80 (p.T851Rfs*80) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.Ser837ValfsTer94 (p.S837Vfs*94) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.Val587AlafsTer69 (p.V587Afs*69) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Val587SerfsTer69 (p.V587Sfs*69) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Ala570ValfsTer7 (p.A570Vfs*7) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Gln457Ter (p.Q457*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Leu90ProfsTer21 (p.L90Pfs*21) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Glu85MetfsTer26 (p.E85Mfs*26) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Thr50SerfsTer61 (p.T50Sfs*61) ( ENST00000340811.9, ENST00000546741.3, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 p.Gly5AlafsTer34 (p.G5Afs*34) ( ENST00000070846.11, ENST00000340811.9, ENST00000546741.3, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Asn815GlufsTer11 (p.N815Efs*11) ( ENST00000340811.9, ENST00000700558.2, ENST00000700559.2, ENST00000070846.11, ENST00000549461.3 )
PKP2 p.Pro779SerfsTer21 (p.P779Sfs*21) ( ENST00000700559.2, ENST00000700558.2, ENST00000070846.11, ENST00000549461.3, ENST00000340811.9 )
PKP2 p.Ile777AlafsTer2 (p.I777Afs*2) ( ENST00000070846.11, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2, ENST00000340811.9 )
PKP2 p.His733AlafsTer8 (p.H733Afs*8) ( ENST00000340811.9, ENST00000070846.11, ENST00000549461.3, ENST00000700559.2, ENST00000700558.2 )
PKP2 p.Leu436HisfsTer11 (p.L436Hfs*11) ( ENST00000070846.11, ENST00000700564.2, ENST00000700559.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 p.His318GlnfsTer24 (p.H318Qfs*24) ( ENST00000340811.9, ENST00000700563.2, ENST00000070846.11, ENST00000700564.2, ENST00000700559.2 )
PKP2 p.Asn815GlufsTer11 (p.N815Efs*11) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.Pro779SerfsTer21 (p.P779Sfs*21) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.Ile777AlafsTer2 (p.I777Afs*2) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.His733AlafsTer8 (p.H733Afs*8) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 p.Leu436HisfsTer11 (p.L436Hfs*11) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.His318GlnfsTer24 (p.H318Qfs*24) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
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 p.Arg735Ter (p.R735*) ( ENST00000340811.9, ENST00000070846.11, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 )
PKP2 c.2146-1G>C ( ENST00000549461.3, ENST00000070846.11, ENST00000700559.2, ENST00000700558.2, ENST00000340811.9 )
PKP2 p.Gln707Ter (p.Q707*) ( ENST00000700558.2, ENST00000700562.2, ENST00000700559.2, ENST00000549461.3, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 p.Glu667Ter (p.E667*) ( ENST00000549461.3, ENST00000070846.11, ENST00000700564.2, ENST00000700558.2, ENST00000700559.2, ENST00000700562.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 p.Gln638Ter (p.Q638*) ( ENST00000700559.2, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 c.1688+1G>A ( ENST00000700559.2, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 p.Trp538Ter (p.W538*) ( ENST00000070846.11, ENST00000700564.2, ENST00000700559.2, 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.Phe424Ser (p.F424S) ( ENST00000070846.11, ENST00000700564.2, ENST00000700559.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 p.Arg413Ter (p.R413*) ( ENST00000700563.2, ENST00000340811.9, ENST00000700559.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 p.Gln393Ter (p.Q393*) ( ENST00000070846.11, ENST00000700564.2, ENST00000700559.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 c.1170+2T>A ( ENST00000700559.2, ENST00000700564.2, ENST00000070846.11, ENST00000700563.2, ENST00000340811.9 )
PKP2 c.1170+1G>A ( ENST00000340811.9, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11, ENST00000700559.2 )
PKP2 p.Gln378Ter (p.Q378*) ( ENST00000700563.2, ENST00000340811.9, ENST00000700559.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 p.Lys258Ter (p.K258*) ( ENST00000340811.9, ENST00000700563.2, ENST00000700564.2, ENST00000070846.11, ENST00000700559.2 )
PKP2 p.Trp123Ser (p.W123S) ( ENST00000700564.2, ENST00000070846.11, ENST00000700559.2, ENST00000340811.9, ENST00000700563.2 )
PKP2 c.337-2A>T ( ENST00000700563.2, ENST00000340811.9, ENST00000700559.2, ENST00000700564.2, ENST00000070846.11 )
PKP2 p.Arg79Ter (p.R79*) ( ENST00000340811.9, ENST00000700559.2, ENST00000070846.11, ENST00000700564.2, ENST00000700563.2 )
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 p.Arg735Ter (p.R735*) ( 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.Gln707Ter (p.Q707*) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2, ENST00000700562.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Glu667Ter (p.E667*) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2, ENST00000700562.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Gln638Ter (p.Q638*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 c.1688+1G>A ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Trp538Ter (p.W538*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, 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.Phe424Ser (p.F424S) ( 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.Gln393Ter (p.Q393*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 c.1170+2T>A ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 c.1170+1G>A ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Gln378Ter (p.Q378*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Lys258Ter (p.K258*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Trp123Ser (p.W123S) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 c.337-2A>T ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Arg79Ter (p.R79*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
PKP2 p.Arg653GlufsTer91 (p.R653Efs*91)
PKP2 p.Cys609ValfsTer5 (p.C609Vfs*5)
PKP2 p.Lys405Ter (p.K405*)
PKP2 p.Arg653GlufsTer91 (p.R653Efs*91)
PKP2 p.Cys609ValfsTer5 (p.C609Vfs*5)
PKP2 p.Lys405Ter (p.K405*) - Associated Disease
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs