OTC, DEL

Variation ID: Help
10986
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 1, 1990
Number of submission(s):
1
Condition(s):
Ornithine carbamoyltransferase deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

OTC, DEL

Allele ID:
26025
Variant type:
Deletion
Cytogenetic location:
Xp21.1
Other names:
  • OTC, DEL
  • DEL
Links:
OMIM: 300461.0001

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 1, 1990)
no assertion criteria providedliterature onlyunknownOMIMSCV000031965.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedunknownnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jun 15, 2017