G28* (p.Gly28Ter) variant of FANCA (Fanconi anemia group A protein)
G28* (p.Gly28Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G28* (p.Gly28Ter) variant details
- p.Gly28Ter
- rs2544390572
- ClinGen CA2580092402
- ClinVar RCV002881341
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)