1 Matching Annotations
  1. Jul 2024
    1. Case: patient #188, male

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: TABLE 1

      Variant: NM_000531.6: c.835C>T(p.Gln279*)

      ClinVarID: 97341

      CAID: CA224811

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)