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 disease type 4a
- Source Database
- ClinVar
- Description
- NM_057176.3(BSND):c.547G>A (p.Gly183Ser) AND Bartter disease type 4A
- ClinVar Allele ID
- 746571
- ClinVar RefSeq Alternation Syntax
- NM_057176.3:c.547G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001097212
- ClinVar Disease
- Bartter disease type 4A
- Observed Origin Sample
- germline
Drugs