Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNQ1 p.Phe275Ser (p.F275S)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2 )
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.Gly306Val (p.G306V) ( ENST00000496887.7, ENST00000155840.12, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNH2 p.Leu559His (p.L559H) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Glu444Asp (p.E444D) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Glu444= (p.E444=) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Leu413Pro (p.L413P) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNQ1 p.Phe275Ser (p.F275S) ( 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.Gly306Val (p.G306V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNH2 p.Leu559His (p.L559H) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Glu444Asp (p.E444D) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Glu444= (p.E444=) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Leu413Pro (p.L413P) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- cardiac event
- Source Database
- DisGeNET
- Description
- Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, sudden death) for LQTS patients with KCNQ1 mutations F275S, S277L, and G306V, and all three KCNH2 mutations L413P, E444D and L559H.
- Pubmed
- 12442276
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00624316305784698
- Year of publication
- 2002
Drugs