ClinGen Dosage Sensitivity Curation Page

BSND

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)

Haploinsufficiency phenotype comments:

This gene is associated with two recessively inherited conditions: Bartter syndrome type 4A and nonsyndromic hearing loss.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity