ClinGen Dosage Sensitivity Curation Page

HGSNAT

  • Curation Status: Complete

Location Information

  • 8p11.21-p11.1
  • GRCh37/hg19 chr8: 42,995,592-43,057,970
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr8: 43,140,449-43,202,855
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated