M29D (p.Met29Asp) variant of BRIP1 (Fanconi anemia group J protein)
M29D (p.Met29Asp) 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.
M29D (p.Met29Asp) variant details
- p.Met29Asp
- rs2545479728
- ClinGen CA2582342263
- ClinVar RCV003334540
- 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)