Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Thr722Ala (p.T722A)
(
ENST00000543768.1,
ENST00000360168.7,
ENST00000396966.6,
ENST00000540037.5,
ENST00000228916.7 )
SCNN1A p.Thr722Ala (p.T722A) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 ) - Associated Disease
- Liddle syndrome 3
- Source Database
- ClinVar
- Description
- NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) AND Liddle syndrome 3
- ClinVar Allele ID
- 175889
- ClinVar RefSeq Alternation Syntax
- NM_001159575.2:c.2056A>G
- ClinVar RefSeq Alternation Syntax
- NM_001159576.2:c.2164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001038.6:c.1987A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001807094
- ClinVar Disease
- Liddle syndrome 3
- Observed Origin Sample
- germline
Drugs