Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Val173Ile (p.V173I)
(
ENST00000396966.6,
ENST00000228916.7,
ENST00000543768.1,
ENST00000360168.7 )
SCNN1A p.Phe120Leu (p.F120L) ( ENST00000228916.7, ENST00000396966.6, ENST00000360168.7, ENST00000543768.1 )
SCNN1A p.Val173Ile (p.V173I) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000543768.1 )
SCNN1A p.Phe120Leu (p.F120L) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000543768.1 ) - Associated Disease
- Bronchiectasis with or without elevated sweat chloride 2
- Source Database
- DisGeNET
- Description
- Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
- Pubmed
- 19462466
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2009
Drugs