4 Matching Annotations
  1. Jul 2024
    1. Case: no patient #ID, female Disease Assertion: UCD/OTCD

      Family Info: NA

      Case Presenting HPOs: NA

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: NA

      Supplemental Data: TABLE 1, Notes: NA

      Variant: NM_000531.6: c.665del(p.(Gly222ValfsTer8)

      ClinVarID: 97289

      CAID: CA224738

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    2. Case: no patient #ID, female Disease Assertion: UCD/OTCD

      Family Info: NA

      Case Presenting HPOs: NA

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: NA

      Supplemental Data: TABLE 1, Notes: NA

      Variant: NM_000531.6: c.663+2T>C

      ClinVarID: 97285

      CAID: CA224732

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    3. Case: no patient #ID, male Disease Assertion: UCD/OTCD

      Family Info: NA

      Case Presenting HPOs: NA

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: NA

      Supplemental Data: TABLE 1, Notes: NA

      Variant: NM_000531.6: c.663+1G>A

      ClinVarID: 97283

      CAID: CA224730

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    4. Case: no patient #ID, female Disease Assertion: UCD/OTCD

      Family Info: NA

      Case Presenting HPOs: NA

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: NA

      Supplemental Data: TABLE 1, Notes: NA

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

      ClinVarID: 97314

      CAID: CA224774

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)