1 Matching Annotations
  1. Jul 2024
    1. Case: no patient ID#, male

      Disease Assertion: UCD/OTCD

      Family Info:

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: GDNA was extracted from blood or liver tissues using salt and ethanol precipitation. multiplex amplification for exons 1, 5 and 9 to screen male patients with large deletions. Band intensities were measured using a molecular dynamics phosphoimager.

      Supplemental Data: TABLE 2,

      Variant: NM_000531.6: c.437C>G(p.Ser146*)

      ClinVarID: 97201

      CAID: CA224606

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)