Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly314Ser (p.G314S)
(
ENST00000335475.6,
ENST00000155840.12,
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.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 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner, which is consistent with long QT syndrome in the members of the Chinese family carrying G314S KCNQ1 mutation.
- Pubmed
- 19348785
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2009
Drugs