Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ala178Thr (p.A178T)
(
ENST00000335475.6,
ENST00000496887.7,
ENST00000155840.12,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Ala178Pro (p.A178P) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Gly179Ser (p.G179S) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Arg195Trp (p.R195W) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Val205Met (p.V205M) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 c.683+2T>G ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg231His (p.R231H) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Arg243Ser (p.R243S) ( ENST00000155840.12, ENST00000496887.7, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg243Cys (p.R243C) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Val254Met (p.V254M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Leu266Pro (p.L266P) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Ser277Trp (p.S277W) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Ser277Leu (p.S277L) ( ENST00000496887.7, ENST00000155840.12, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg293Cys (p.R293C) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Ala302Glu (p.A302E) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Ala302Val (p.A302V) ( ENST00000155840.12, ENST00000496887.7, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Thr322Lys (p.T322K) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Thr322Arg (p.T322R) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Thr322Met (p.T322M) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Glu (p.A341E) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ala341Gly (p.A341G) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ala341Val (p.A341V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala344= (p.A344=) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala344= (p.A344=) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 c.1032+1G>A ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly345Arg (p.G345R) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Gly345Arg (p.G345R) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Arg366Trp (p.R366W) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg380Ser (p.R380S) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Arg397Gly (p.R397G) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Arg397Trp (p.R397W) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Arg452Trp (p.R452W) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Arg518Gly (p.R518G) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Ter (p.R518*) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Gln (p.R518Q) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Arg518Pro (p.R518P) ( ENST00000155840.12, ENST00000496887.7, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Lys526Gln (p.K526Q) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Lys526Glu (p.K526E) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Gln530Ter (p.Q530*) ( ENST00000155840.12, ENST00000496887.7, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ser566Tyr (p.S566Y) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Ser566Phe (p.S566F) ( ENST00000155840.12, ENST00000496887.7, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala178Thr (p.A178T) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala178Pro (p.A178P) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly179Ser (p.G179S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg195Trp (p.R195W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val205Met (p.V205M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.683+2T>G ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg231His (p.R231H) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg243Ser (p.R243S) ( ENST00000713725.1, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2 )
KCNQ1 p.Arg243Cys (p.R243C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val254Met (p.V254M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Leu266Pro (p.L266P) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser277Trp (p.S277W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser277Leu (p.S277L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg293Cys (p.R293C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala302Glu (p.A302E) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala302Val (p.A302V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr322Lys (p.T322K) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr322Arg (p.T322R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr322Met (p.T322M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Glu (p.A341E) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Gly (p.A341G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Val (p.A341V) ( ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7 )
KCNQ1 p.Ala344= (p.A344=) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala344= (p.A344=) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1032+1G>A ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly345Arg (p.G345R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly345Arg (p.G345R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg366Trp (p.R366W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg380Ser (p.R380S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg397Gly (p.R397G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg397Trp (p.R397W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg452Trp (p.R452W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Gly (p.R518G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Ter (p.R518*) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Gln (p.R518Q) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Pro (p.R518P) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Lys526Gln (p.K526Q) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Lys526Glu (p.K526E) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gln530Ter (p.Q530*) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser566Tyr (p.S566Y) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser566Phe (p.S566F) ( ENST00000713725.1, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2 ) - 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
- 0.41651083741347
- Year of publication
- NA
Drugs