Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ser140Gly (p.S140G)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Ser209Pro (p.S209P) ( ENST00000155840.12, ENST00000496887.7, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly229Asp (p.G229D) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg231His (p.R231H) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Ser140Gly (p.S140G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser209Pro (p.S209P) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly229Asp (p.G229D) ( 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.Pro56_Gly57insSerArgPro (p.P56_G57insSRP)
KCNQ1 p.Pro56_Gly57insSerArgPro (p.P56_G57insSRP) - Associated Disease
- Atrial fibrillation, familial, 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs