Y100* (p.Tyr100Ter) variant of F13B (Coagulation factor XIII B chain)
Y100* (p.Tyr100Ter) in F13B (Coagulation factor XIII B chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
Y100* (p.Tyr100Ter) variant details
- p.Tyr100Ter
- rs779048554
- ClinGen CA1308605
- ClinVar RCV000851768
- ClinVar RCV002266896
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III… (PMID 8639893)