4 Matching Annotations
  1. Jul 2024
  2. drive.google.com drive.google.com
    Caldovic_et_al_2015-JGG_OTC_MutationUpdate.pdf
    4
    1. yemnguimbous 08 Jul 2024

      Case: patient #335, 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: No specific functional tests indicated

      Supplemental Data: In supplemental data files

      Variant: NM_000531.6: c.861_862insAC (p.Met288Thrfs*2)

      ClinVarID: N/A

      CAID: CA2759522140

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

      c.861_862insAC Gene: OTC Mutation: Frameshift PMID: 26059767 CAID: CA2759522140
    2. yemnguimbous 08 Jul 2024

      Case: patient #303, 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: No specific functional tests indicated

      Supplemental Data: In supplemental data files

      Variant: NM_000531.6: c.766G>T(p.256Gly*)

      ClinVarID: 870326

      CAID: CA412722685

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

      c.766G>T Gene: OTC Mutation: Nonsense PMID: 26059767 CAID: CA412722685 ClinVar: 870326
    3. yemnguimbous 08 Jul 2024

      Case: patient #212, 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: No specific functional tests indicated

      Supplemental Data: In supplemental data files

      Variant: NM_000531.6:c.561delA(p.Gly188Valfs*18)

      ClinVarID: N/A

      CAID: CA2499307429

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

      c.561delA Gene: OTC PMID: 26059767 Mutation: Frameshift CAID: CA2499307429
    4. yemnguimbous 08 Jul 2024

      Case: patient #198, 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: No specific functional tests indicated

      Supplemental Data: In supplemental data files

      Variant: NM_000531.6:c.538C>T(p.Gln180*)

      ClinVarID: N/A

      CAID: CA412724187

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

      c.538C>T Gene: OTC Mutation: Nonsense PMID: 26059767 CAID: CA412724187
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