Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ala71_Pro73del (p.A71_P73del)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000713725.1,
ENST00000646564.2 )
KCNQ1 p.Ala71_Pro73del (p.A71_P73del) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala178GlyfsTer107 (p.A178Gfs*107) ( ENST00000155840.12, ENST00000496887.7, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ala178GlyfsTer107 (p.A178Gfs*107) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro117Leu (p.P117L) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
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.Gly189Arg (p.G189R) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Gly189Arg (p.G189R) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Arg190Gln (p.R190Q) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg190Leu (p.R190L) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Val205Met (p.V205M) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Arg231His (p.R231H) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
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.Gly269Ser (p.G269S) ( ENST00000335475.6, ENST00000496887.7, ENST00000155840.12, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Arg (p.G269R) ( ENST00000496887.7, ENST00000155840.12, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Asp (p.G269D) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Gly269Val (p.G269V) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Leu273Phe (p.L273F) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Ala300Thr (p.A300T) ( ENST00000155840.12, ENST00000496887.7, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly306Arg (p.G306R) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Gly306Arg (p.G306R) ( ENST00000496887.7, ENST00000155840.12, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 c.922-1G>C ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Thr312Ile (p.T312I) ( ENST00000496887.7, ENST00000155840.12, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Gly314Ser (p.G314S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly314Arg (p.G314R) ( ENST00000155840.12, ENST00000496887.7, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Gly314Cys (p.G314C) ( ENST00000155840.12, ENST00000496887.7, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
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 p.Gly345Glu (p.G345E) ( 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.Val417Met (p.V417M) ( ENST00000155840.12, ENST00000496887.7, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Pro448Gln (p.P448Q) ( ENST00000713725.1, ENST00000335475.6, ENST00000646564.2, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Pro448Arg (p.P448R) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Leu (p.P448L) ( ENST00000496887.7, ENST00000155840.12, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Ser546Leu (p.S546L) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg555Ser (p.R555S) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Arg555Cys (p.R555C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg583Cys (p.R583C) ( ENST00000155840.12, ENST00000526095.2, ENST00000496887.7, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Gly589Asp (p.G589D) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro117Leu (p.P117L) ( ENST00000155840.12, ENST00000496887.7, 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.Gly189Arg (p.G189R) ( ENST00000646564.2, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000713725.1 )
KCNQ1 p.Gly189Arg (p.G189R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg190Gln (p.R190Q) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg190Leu (p.R190L) ( 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 p.Arg231His (p.R231H) ( 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.Gly269Ser (p.G269S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Arg (p.G269R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Asp (p.G269D) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Val (p.G269V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Leu273Phe (p.L273F) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala300Thr (p.A300T) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly306Arg (p.G306R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly306Arg (p.G306R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.922-1G>C ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr312Ile (p.T312I) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly314Ser (p.G314S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly314Arg (p.G314R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly314Cys (p.G314C) ( 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 p.Gly345Glu (p.G345E) ( 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.Val417Met (p.V417M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Gln (p.P448Q) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Arg (p.P448R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Leu (p.P448L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser546Leu (p.S546L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg555Ser (p.R555S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg555Cys (p.R555C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg583Cys (p.R583C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly589Asp (p.G589D) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Cys122LeufsTer163 (p.C122Lfs*163)
KCNQ1 p.Cys122LeufsTer163 (p.C122Lfs*163) - Associated Disease
- Romano-Ward Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.573049072903183
- Year of publication
- NA
Drugs