Annotation Detail
Information
- Associated Genes
- STIM1 LOC112081391 LOC121832782 LOC121832783 LOC124418420 LOC124418421 LOC130005165 LOC130005166 LOC130005167 LOC130005168 LOC130005169 LOC130005170 LOC130005171 LOC130005172 LOC130005173
- Associated Variants
-
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions - Associated Disease
- Combined immunodeficiency due to STIM1 deficiency Stormorken syndrome Myopathy with tubular aggregates
- Source Database
- ClinVar
- Description
- NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions
- ClinVar Allele ID
- 652094
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-09-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001388224
- ClinVar Disease
- Stormorken syndrome
- ClinVar Disease
- Myopathy with tubular aggregates
- ClinVar Disease
- Combined immunodeficiency due to STIM1 deficiency
- Observed Origin Sample
- germline
Drugs