C55R (p.Cys55Arg) variant of FGA (Fibrinogen alpha chain)
C55R (p.Cys55Arg) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature.
C55R (p.Cys55Arg) variant details
- p.Cys55Arg
- rs2530829969
- ClinGen CA358533669
- ClinVar RCV003480132
- UniProt VAR 072721
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CAFBN)
- UniProt: Pathogenic (in CAFBN)
- Cited in: Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. (PMID 25427968)