ITGB2, IVS4AS, 169-BP DEL, -37

Variation ID: Help
9472
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 1, 2000
Number of submission(s):
1
Condition(s):
Leukocyte adhesion deficiency[MedGen]
See supporting ClinVar records

Allele(s) Help

ITGB2, IVS4AS, 169-BP DEL, -37

Allele ID:
24511
Variant type:
Deletion
Cytogenetic location:
21q22.3
Other names:
  • IVS4AS, 169-BP DEL, -37
Links:
OMIM: 600065.0015

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
(Mar 1, 2000)
no assertion criteria providedliterature only
  • Leukocyte adhesion deficiency[MedGen]
germlineOMIMSCV000030301.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 7, 2017