Annotation Detail
Information
- Associated Genes
- KCNE1
- Associated Variants
-
KCNE1 p.Asp85Asn (p.D85N)
(
ENST00000416357.6,
ENST00000399284.1,
ENST00000399286.3,
ENST00000337385.7,
ENST00000399289.7,
ENST00000432085.5,
ENST00000611936.1,
ENST00000621601.4 )
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- DisGeNET
- Description
- Genetic screening identified a KCNE1 D85N variant, which has been reported to be a LQTS-causing gene variant, in the patient and her younger sister, whose QT interval was also prolonged.
- Pubmed
- 20823649
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121900093104562
- Year of publication
- 2010
Drugs