L36C (p.Leu36Cys) variant of BRIP1 (Fanconi anemia group J protein)
L36C (p.Leu36Cys) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L36C (p.Leu36Cys) variant details
- p.Leu36Cys
- rs2545473339
- ClinGen CA2582342261
- ClinVar RCV003334772
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)