Annotation Detail
Information
- Associated Genes
- CD40LG
- Associated Variants
-
CD40LG p.Leu50= (p.L50=)
(
ENST00000370628.2,
ENST00000370629.7,
ENST00000695724.1,
ENST00000695725.1 )
CD40LG p.Leu50= (p.L50=) ( ENST00000370628.2, ENST00000370629.7, ENST00000695724.1, ENST00000695725.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000074.3(CD40LG):c.148T>C (p.Leu50=) AND not specified
- ClinVar Allele ID
- 508948
- ClinVar RefSeq Alternation Syntax
- NM_000074.3:c.148T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001702692
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs