Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Trp1001Ter (p.W1001*)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ala913Val (p.A913V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn861Ile (p.N861I) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn861Ser (p.N861S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn861Thr (p.N861T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Val822Leu (p.V822L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Val822Met (p.V822M) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ser818Leu (p.S818L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg752Gln (p.R752Q) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg744Ter (p.R744*) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg744Gly (p.R744G) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg744= (p.R744=) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly628Arg (p.G628R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly628Ser (p.G628S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala614Val (p.A614V) ( 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.Ile593Arg (p.I593R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Thr (p.I593T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Lys (p.I593K) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly584Cys (p.G584C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly584Arg (p.G584R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly584Ser (p.G584S) ( ENST00000330883.9, ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg582Cys (p.R582C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Cys (p.G572C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Arg (p.G572R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala561Val (p.A561V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala558Pro (p.A558P) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn470Asp (p.N470D) ( ENST00000262186.10, ENST00000330883.9, 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.Glu289Lys (p.E289K) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Glu229Ter (p.E229*) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asp219Val (p.D219V) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg164His (p.R164H) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Val115Met (p.V115M) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Thr65Pro (p.T65P) ( ENST00000262186.10, ENST00000713710.1 )
KCNH2 p.Trp1001Ter (p.W1001*) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala913Val (p.A913V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn861Ile (p.N861I) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn861Ser (p.N861S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn861Thr (p.N861T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Val822Leu (p.V822L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Val822Met (p.V822M) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ser818Leu (p.S818L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg752Gln (p.R752Q) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg744Ter (p.R744*) ( ENST00000713701.1, ENST00000713710.1, ENST00000262186.10, ENST00000330883.9 )
KCNH2 p.Arg744Gly (p.R744G) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg744= (p.R744=) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly628Arg (p.G628R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly628Ser (p.G628S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala614Val (p.A614V) ( 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.Ile593Arg (p.I593R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Thr (p.I593T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Lys (p.I593K) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly584Cys (p.G584C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly584Arg (p.G584R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly584Ser (p.G584S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg582Cys (p.R582C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Cys (p.G572C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Arg (p.G572R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala561Val (p.A561V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ala558Pro (p.A558P) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asn470Asp (p.N470D) ( ENST00000262186.10, ENST00000330883.9, 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.Glu289Lys (p.E289K) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Glu229Ter (p.E229*) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Asp219Val (p.D219V) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg164His (p.R164H) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Val115Met (p.V115M) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Thr65Pro (p.T65P) ( ENST00000262186.10, ENST00000713710.1 )
KCNH2 p.Ala282GlyfsTer50 (p.A282Gfs*50)
KCNH2 p.Ala282GlyfsTer50 (p.A282Gfs*50) - Associated Disease
- long QT syndrome 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- NA
Drugs