Q18* (p.Gln18Ter) variant of RAD51D (O75771)
Q18* (p.Gln18Ter) in RAD51D (O75771) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs2509188925
- ClinGen CA399092396
- ClinVar RCV004440022
- ClinVar RCV005475539
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)