APC, 5-BP DEL, NT3221

Variation ID: Help
842
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 1, 2005
Number of submission(s):
1
Condition(s):
Familial adenomatous polyposis 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

APC, 5-BP DEL, NT3221

Allele ID:
15881
Variant type:
Deletion
Cytogenetic location:
5q21-q22
Other names:
  • 5-BP DEL, NT3221
Note:
NCBI staff could not confirm the published nucleotide change on current reference sequence after review of PubMed 15771908.
Links:
OMIM: 611731.0051

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
(Apr 1, 2005)
no assertion criteria providedliterature onlygermlineOMIMSCV000021035.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 26, 2017