Annotation Detail
Information
- Associated Genes
- KCNE1
- Associated Variants
-
KCNE1 p.Gly52Arg (p.G52R)
(
ENST00000337385.7,
ENST00000399284.1,
ENST00000399286.3,
ENST00000399289.7,
ENST00000416357.6,
ENST00000432085.5,
ENST00000611936.1,
ENST00000621601.4 )
KCNE1 p.Gly52Arg (p.G52R) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- A novel missense mutation, G to A at position 154 in the KCNE1 gene was identified in a Chinese Long QT syndrome family, which leads to an amino acid substitution of arginine (R) for glycine (G) at position 52 (G52R-KCNE1).
- Pubmed
- 14499862
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.280000439372557
- Year of publication
- 2003
Drugs