1 Matching Annotations
  1. Jul 2024
    1. Case: patient #85, 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: 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.449_451del(p.Leu151Trpfs*36)

      ClinVarID: N/A

      CAID: CA2759533410

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)