Annotation Detail
Information
- Associated Genes
- BSND
- Associated Variants
-
BSND p.Gly183Ser (p.G183S)
(
ENST00000651561.1 )
BSND p.Gly183Ser (p.G183S) ( ENST00000651561.1 ) - Associated Disease
- Bartter syndrome
- Source Database
- ClinVar
- Description
- NM_057176.3(BSND):c.547G>A (p.Gly183Ser) AND Bartter syndrome
- ClinVar Allele ID
- 746571
- ClinVar RefSeq Alternation Syntax
- NM_057176.3:c.547G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2020-09-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001278126
- ClinVar Disease
- Bartter syndrome
- Observed Origin Sample
- germline
Drugs