ClinGen Dosage Sensitivity Curation Page

ERCC5

  • Curation Status: Complete

Location Information

  • 13q33.1
  • GRCh37/hg19 chr13: 103,498,191-103,528,351
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr13: 102,846,032-102,875,995
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000013.10) (NC_000013.11)
  • 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