DPYD, 4-BP DEL, 296TCAT

Variation ID: Help
434
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 1, 2009
Number of submission(s):
1
Condition(s):
Dihydropyrimidine dehydrogenase deficiency[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

DPYD, 4-BP DEL, 296TCAT

Allele ID:
15473
Variant type:
Deletion
Cytogenetic location:
1p22
Other names:
  • 4-BP DEL, 296TCAT
Links:
OMIM: 612779.0003

1 Affected gene

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
(Jun 1, 2009)
no assertion criteria providedliterature only
  • Dihydropyrimidine dehydrogenase deficiency[MedGen | OMIM]
germlineOMIMSCV000020612.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 17, 2016