Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
NC_000002.12:g.203867624C>T
(
ENST00000696479.1 )
NC_000002.12:g.203867624C>T ( ENST00000696479.1 ) - Associated Disease
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Source Database
- ClinVar
- Description
- NC_000002.12:g.203867624C>T AND Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- ClinVar Allele ID
- 1153955
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-12-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001518520
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Observed Origin Sample
- germline
Drugs