- Jul 2024
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drive.google.com drive.google.com
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Case: patient #5, female
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: 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.53del (p.His18Profs*20)
ClinVarID: 97239
CAID: CA224671
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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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)
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Case: patient #154, 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: 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.664-1G>A
ClinVarID: 97288
CAID: CA224811
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #188, 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: 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.835C>T(p.Gln279*)
ClinVarID: 97341
CAID: CA224811
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #213, 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: 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.962C>A(p.Ser321*)
ClinVarID: 97373
CAID: CA224859
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #220, 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: 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.1005+2T>C
ClinVarID: 97090
CAID: CA224431
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
Tags
- c.449_451delC
- ClinVar: 97341
- PMID:11793468
- Mutation: Nonsense
- CAID: CA224811
- ClinVar: 97373
- c.664-1G>A
- ClinVar: 97239
- CAID: CA2759533410
- ClinVar: 97090
- Mutation: Splicing LOF
- c.962C>A
- CAID: CA224737
- ClinVar: 97288
- Gene: OTC
- CAID: CA224431
- c.835C>T
- c.53delA
- CAID: CA224859
- CAID: CA224671
- Mutation: Frameshift
- c.1005+2T>C
Annotators
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