PMS2, 20-BP INS, NT1169

PMS2, 20-BP INS, NT1169

Variant type:
Insertion
Cytogenetic location:
7p22
Other names:
  • 20-BP INS, NT1169
Links:
OMIM: 600259.0013

Clinical significance

PMS2, 20-BP INS, NT1169

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

1 Affected gene

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Jul 24, 2012)
no assertion criteria providedliterature onlygermlinePubMed (1)
[See all records that cite this PMID]
OMIM

(Dec 30, 2010)

SCV000030048
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedTurcot syndrome (not provided)not providednot providedPubMedIn affected members of a consanguineous Guyanese family with variable expression of colorectal adenocarcinoma, acute leukemia, brain tumors, and cafe-…Full description

Last Updated: Jun 27, 2015