ClinGen Dosage Sensitivity Curation Page

AMN

  • Curation Status: Complete

Location Information

  • 14q32.32
  • GRCh37/hg19 chr14: 103,388,993-103,397,179
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr14: 102,922,430-102,930,842
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000014.8) (NC_000014.9)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: MEGALOBLASTIC ANEMIA 1
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity