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.Trp552Arg (p.W552R) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 ) - Associated Disease
- autosomal recessive pseudohypoaldosteronism type 1
- Source Database
- ClinVar
- Description
- NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) AND Autosomal recessive pseudohypoaldosteronism type 1
- ClinVar Allele ID
- 24308
- ClinVar RefSeq Alternation Syntax
- NM_001159576.2:c.1654T>C
- ClinVar RefSeq Alternation Syntax
- NM_001038.6:c.1477T>C
- ClinVar RefSeq Alternation Syntax
- NM_001159575.2:c.1546T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000264087
- ClinVar Disease
- Autosomal recessive pseudohypoaldosteronism type 1
- Observed Origin Sample
- germline
Drugs