ICOS, EX2-3 DEL

Variation ID: Help
5501
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 1, 2004
Number of submission(s):
1
Condition(s):
Common variable immunodeficiency 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

ICOS, EX2-3 DEL

Allele ID:
20540
Variant type:
Deletion
Cytogenetic location:
2q33
Other names:
  • EX2-3 DEL
Links:
OMIM: 604558.0001

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
(Dec 1, 2004)
no assertion criteria providedliterature only
  • Common variable immunodeficiency 1[MedGen | OMIM]
germlineOMIMSCV000026018.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 27, 2016