Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
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.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 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
- Pubmed
- 21241800
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2011
Drugs