ADA, IVS2DS, G-A, +1

Variation ID: Help
1974
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 1, 1994
Number of submission(s):
1
Condition(s):
Severe combined immunodeficiency due to ADA deficiency[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

ADA, IVS2DS, G-A, +1

Allele ID:
17013
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.11
Other names:
  • IVS2DS, G-A, +1
Links:
OMIM: 608958.0022

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
(May 1, 1994)
no assertion criteria providedliterature only
  • Severe combined immunodeficiency due to ADA deficiency[MedGen | OMIM]
germlineOMIMSCV000022209.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 5, 2016