Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Trp552Arg (p.W552R)
(
ENST00000540037.5,
ENST00000396966.6,
ENST00000228916.7,
ENST00000543768.1,
ENST00000360168.7 )
SCNN1A p.Val173Ile (p.V173I) ( ENST00000396966.6, ENST00000228916.7, ENST00000543768.1, ENST00000360168.7 )
SCNN1A p.Arg140Cys (p.R140C) ( ENST00000360168.7, ENST00000543768.1, ENST00000228916.7, ENST00000396966.6 )
SCNN1A p.Trp552Arg (p.W552R) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 )
SCNN1A p.Val173Ile (p.V173I) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000543768.1 )
SCNN1A p.Arg140Cys (p.R140C) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000543768.1 ) - Associated Disease
- Bronchiectasis with or without elevated sweat chloride 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs