Annotation Detail
Information
- Associated Genes
- ICOS
- Associated Variants
-
ICOS c.*1024C>T
(
ENST00000316386.11,
ENST00000435193.1 )
ICOS c.*1024C>T ( ENST00000316386.11, ENST00000435193.1 ) - Associated Disease
- Immunodeficiency, common variable, 1
- Source Database
- ClinVar
- Description
- NM_012092.4(ICOS):c.*1024C>T AND Immunodeficiency, common variable, 1
- ClinVar Allele ID
- 287216
- ClinVar RefSeq Alternation Syntax
- NM_012092.4:c.*1024C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000325562
- ClinVar Disease
- Immunodeficiency, common variable, 1
- Observed Origin Sample
- germline
Drugs