2 Matching Annotations
  1. Jul 2024
    1. Case: no patient #ID, female Disease Assertion: UCD/OTCD

      Family Info: NA

      Case Presenting HPOs: NA

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: NA

      Supplemental Data: TABLE 1, Notes: NA

      Variant: NM_000531.6: c.77+1G>T

      ClinVarID: 97314

      CAID: CA224774

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    1. Case: patient #16, female, Japanese

      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: The severity of missense mutations was assessed using conservation and solvent accessible area of the replaced amino acid, calculated destabilization of mutant proteins and their SIFT and PolyPhen2 scores

      Supplemental Data: Kido_et_al_2022_fgene_Data Sheet 2

      Variant: NM_000531.6:c.77+1G>T

      ClinVarID: 97314

      CAID: CA224774

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)