POLH, 4-BP DEL, NT289

Variation ID: Help
5885
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 17, 1999
Number of submission(s):
1
Condition(s):
Xeroderma pigmentosum, variant type[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

POLH, 4-BP DEL, NT289

Allele ID:
20924
Variant type:
Deletion
Cytogenetic location:
6p21.1-p12
Other names:
  • 4-BP DEL, NT289
Links:
OMIM: 603968.0002

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 17, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000026425.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 7, 2017