Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
SCNN1A p.Trp552Arg (p.W552R)
(
ENST00000540037.5,
ENST00000396966.6,
ENST00000228916.7,
ENST00000543768.1,
ENST00000360168.7 )
SCNN1A p.Trp552Arg (p.W552R) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 ) - Associated Disease
- Intestinal Diseases
- Source Database
- DisGeNET
- Description
- p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not show any symptoms of respiratory or intestinal disease that could be interpreted as the manifestation of CF or CFTR-related disorder.
- Pubmed
- 21917531
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2012
Drugs