Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Val173Ile (p.V173I)
(
ENST00000396966.6,
ENST00000228916.7,
ENST00000543768.1,
ENST00000360168.7 )
SCNN1A p.Val173Ile (p.V173I) ( 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.340G>A (p.Val114Ile) AND Bronchiectasis with or without elevated sweat chloride 2
- ClinVar Allele ID
- 24307
- ClinVar RefSeq Alternation Syntax
- NM_001038.6:c.340G>A
- ClinVar RefSeq Alternation Syntax
- NM_001159575.2:c.409G>A
- ClinVar RefSeq Alternation Syntax
- NM_001159576.2:c.517G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-03-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009850
- ClinVar Disease
- Bronchiectasis with or without elevated sweat chloride 2
- Observed Origin Sample
- germline
- Pubmed
- 9654209
- Pubmed
- 19462466
Drugs