2 Matching Annotations
  1. Aug 2024
    1. Case: Patient Proband SS, Female, Caucasian

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: De novo inheritance, no family history of disease

      CasePresentingHPOs: Hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), Childhood onset (HP:0011463)

      CaseHPOFreeText:

      CaseNOTHPOs: Positive allopurinol test

      CaseNOTHPOFreeText:

      CasePreviousTesting: Genomic DNA isolated from peripheral blood leukocytes or cultured skin fibroblasts. Amplification by PCR used. SSCP analysis performed. Sequencing of both free and immobilized single strands carried out by dideoxy chain termination method.

      SupplementalData: Table 1: Mutations in the Ornithine Transcarbamylase Gene of 17 Females

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

      ClinVarID: 97313

      CAID: CA224773

      gnomAD:

    1. Case: Patient #15, Female

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

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

      ClinVarID: 97313

      CAID: CA224773

      gnomAD: