ClinGen Dosage Sensitivity Curation Page

ATP6V0A2

  • Curation Status: Complete

Location Information

  • 12q24.31
  • GRCh37/hg19 chr12: 124,196,865-124,246,302
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr12: 123,712,353-123,761,755
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000012.11) (NC_000012.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity