R129P (p.Arg129Pro) variant of FGA (Fibrinogen alpha chain)
R129P (p.Arg129Pro) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CAFBN. The record also includes published literature.
R129P (p.Arg129Pro) variant details
- p.Arg129Pro
- UniProt VAR 072722
- Pathogenic
- in CAFBN
- Missense
- EBI: Pathogenic (in CAFBN)
- UniProt: Pathogenic (in CAFBN)
- Cited in: Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. (PMID 25427968)