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NM_000531.5(OTC):c.72_77+18del24

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 6, 2015)
Last evaluated:
Jul 6, 2015
Accession:
VCV000217299.1
Variation ID:
217299
Description:
24bp deletion
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NM_000531.5(OTC):c.72_77+18del24

Allele ID
213950
Variant type
Deletion
Variant length
24 bp
Cytogenetic location
Xp11.4
Genomic location
X: 38352768-38352791 (GRCh38) GRCh38 UCSC
X: 38212021-38212044 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.38352768_38352791del
NC_000023.10:g.38212021_38212044del
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs863225061
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 6, 2015 RCV000201257.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OTC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
403 540

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 06, 2015)
no assertion criteria provided
Method: clinical testing
Ornithine carbamoyltransferase deficiency
Allele origin: inherited
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
Accession: SCV000255991.1
Submitted: (Jul 06, 2015)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019