4 Matching Annotations
  1. Last 7 days
  2. drive.google.com drive.google.com
    OTC_Variants_UCD_VCEP - Google Drive
    4
    1. yemnguimbous 22 Jul 2024

      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)

      c.665del Gene: OTC Mutation: Frameshift PMID: 9266388 CAID: CA224738 ClinVar: 97289
    2. yemnguimbous 22 Jul 2024

      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)

      Gene: OTC Mutation: Splicing LOF PMID: 9266388 ClinVar: 97285 CAID: CA224732 c.663+2T>C
    3. yemnguimbous 22 Jul 2024

      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)

      c.663+1G>A Gene: OTC Mutation: Splicing LOF PMID: 9266388 CAID: CA224730 ClinVAR: 97283
    4. yemnguimbous 22 Jul 2024

      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)

      c.77+1G>T ClinVar: 97314 Gene: OTC Mutation: Splicing LOF PMID: 9266388 CAID: CA224774
    Visit annotations in context

    Tags

    Annotators

    URL

    drive.google.com/drive/u/1/folders/18-TKHUByFogbOEjQEYl442eDBdqKvYOR