ClinGen Dosage Sensitivity Curation Page

MFRP

  • Curation Status: Complete

Location Information

  • 11q23.3
  • GRCh37/hg19 chr11: 119,209,644-119,217,383
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr11: 119,338,942-119,346,705
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000011.9) (NC_000011.10)
  • 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