ClinGen Dosage Sensitivity Curation Page

SLC12A1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)

Haploinsufficiency phenotype comments:

Homozygous mutations in SLC12A1 are associated with Bartter syndrome type 1.

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