Y35* (p.Tyr35Ter) variant of FANCA (Fanconi anemia group A protein)
Y35* (p.Tyr35Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y35* (p.Tyr35Ter) variant details
- p.Tyr35Ter
- rs747928827
- ClinGen CA397483628
- ClinVar RCV003468103
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)