1 Matching Annotations
  1. Jul 2024
    1. Case: patient #56, female, Japanese

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: ,Hyperammonemia (HP:0001987)

      Case HPO FreeText: N/A

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.

      Supplemental Data: Table 1, patient had a liver transplant at 12yo.

      Variant: NM_000531.6:c.940G>T(p.Glu314*)

      ClinVarID: N/A

      CAID: CA412726302

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)