L39* (p.Leu39Ter) variant of MEN1 (Menin)
L39* (p.Leu39Ter) in MEN1 (Menin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MEN1. The record also includes published literature and structural context.
L39* (p.Leu39Ter) variant details
- p.Leu39Ter
- rs1565652770
- ClinGen CA381187918
- ClinVar RCV003485895
- Ensembl rs1565652770
- Pathogenic
- in MEN1
- Stop Gained
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)