1 Matching Annotations
  1. Jul 2024
    1. Case: patient #212, female

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs:

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: No specific functional tests indicated

      Supplemental Data: In supplemental data files

      Variant: NM_000531.6:c.561delA(p.Gly188Valfs*18)

      ClinVarID: N/A

      CAID: CA2499307429

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)