Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg518Gly (p.R518G)
(
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Arg518Ter (p.R518*) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Gly (p.R518G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg518Ter (p.R518*) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Congenital deafness
- Source Database
- DisGeNET
- Description
- These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.
- Pubmed
- 10737999
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2000
Drugs