Annotation Detail
Information
- Associated Genes
- TNFRSF13C LOC130067574
- Associated Variants
-
TNFRSF13C p.Pro21Arg (p.P21R)
(
ENST00000291232.5 )
TNFRSF13C p.Pro21Arg (p.P21R) ( ENST00000291232.5 ) - Associated Disease
- Immunodeficiency, common variable, 4
- Source Database
- ClinVar
- Description
- NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) AND Immunodeficiency, common variable, 4
- ClinVar Allele ID
- 351721
- ClinVar RefSeq Alternation Syntax
- NM_052945.4:c.62C>G
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000648324
- ClinVar Disease
- Immunodeficiency, common variable, 4
- Observed Origin Sample
- germline
Drugs