Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Arg140Cys (p.R140C)
(
ENST00000360168.7,
ENST00000543768.1,
ENST00000228916.7,
ENST00000396966.6 )
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
- ClinVar
- Description
- NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) AND Bronchiectasis with or without elevated sweat chloride 2
- ClinVar Allele ID
- 24309
- ClinVar RefSeq Alternation Syntax
- NM_001038.6:c.241C>T
- ClinVar RefSeq Alternation Syntax
- NM_001159575.2:c.310C>T
- ClinVar RefSeq Alternation Syntax
- NM_001159576.2:c.418C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009852
- ClinVar Disease
- Bronchiectasis with or without elevated sweat chloride 2
- Observed Origin Sample
- germline
- Pubmed
- 19462466
Drugs