Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Pro1075Leu (p.P1075L)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg1047Cys (p.R1047C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Leu1045Phe (p.L1045F) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Thr983Ile (p.T983I) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg920Trp (p.R920W) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg920Gly (p.R920G) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg887His (p.R887H) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg885Cys (p.R885C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg885Ser (p.R885S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg791Trp (p.R791W) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg752Gln (p.R752Q) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ser735Leu (p.S735L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile711Val (p.I711V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Phe617Leu (p.F617L) ( ENST00000330883.9, ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr616Cys (p.Y616C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr611Asp (p.Y611D) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr611His (p.Y611H) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr597Cys (p.Y597C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg312Cys (p.R312C) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly306Trp (p.G306W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly306Arg (p.G306R) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Pro141Leu (p.P141L) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 c.307+2T>A ( ENST00000262186.10, ENST00000713710.1 )
KCNH2 p.Pro1075Leu (p.P1075L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg1047Cys (p.R1047C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Leu1045Phe (p.L1045F) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Thr983Ile (p.T983I) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg920Trp (p.R920W) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg920Gly (p.R920G) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg887His (p.R887H) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg885Cys (p.R885C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg885Ser (p.R885S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg791Trp (p.R791W) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg752Gln (p.R752Q) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ser735Leu (p.S735L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile711Val (p.I711V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Phe617Leu (p.F617L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr616Cys (p.Y616C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr611Asp (p.Y611D) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr611His (p.Y611H) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Tyr597Cys (p.Y597C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg312Cys (p.R312C) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly306Trp (p.G306W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly306Arg (p.G306R) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Pro141Leu (p.P141L) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 c.307+2T>A ( ENST00000262186.10, ENST00000713710.1 )
KCNH2 p.Gly970TrpfsTer149 (p.G970Wfs*149)
KCNH2 p.Gly970TrpfsTer149 (p.G970Wfs*149) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.38848280393755
- Year of publication
- NA
Drugs