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C1S, 4-BP DEL, NT1087

Variation ID: Help
17067
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 1998
Number of submission(s):
1
Condition(s):
Complement component c1s deficiency[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

C1S, 4-BP DEL, NT1087

Allele ID:
32106
Variant type:
Deletion
Cytogenetic location:
12p13
Other names:
  • C1S, 4-BP DEL, NT1087
  • 4-BP DEL, NT1087
Links:
OMIM: 120580.0001

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
(Oct 1, 1998)
no assertion criteria providedliterature only
  • Complement component c1s deficiency[MedGen | OMIM]
germlineOMIMSCV000038879.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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