Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 c.*1148+236G>A
CTLA4 c.*1148+236G>A - Associated Disease
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Source Database
- ClinVar
- Description
- NM_005214.5(CTLA4):c.*1148+236G>A AND Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- ClinVar Allele ID
- 31961
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001515646
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Observed Origin Sample
- germline
Drugs