R573C (p.Arg573Cys) variant of FGA (Fibrinogen alpha chain)
R573C (p.Arg573Cys) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deep venous thrombosis; Familial visceral amyloidosis, Ostertag type; Familial d. The record also includes published literature.
R573C (p.Arg573Cys) variant details
- p.Arg573Cys
- rs121909613
- ClinGen CA126498
- ClinVar RCV000017872
- ClinVar RCV002222001
- Likely pathogenic
- Deep venous thrombosis; Familial visceral amyloidosis, Ostertag type; Familial d
- Missense
- ClinVar: Likely pathogenic (Deep venous thrombosis; Familial visceral amyloidosis, Ostertag)
- EBI: Pathogenic (in DYSFIBRIN)
- UniProt: Pathogenic (in DYSFIBRIN)
- Cited in: Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization… (PMID 8473507)
- Cited in: The relationship between the fibrinogen D domain self-association/cross-linking site (gammaXL) and the fibrinogen… (PMID 8636415)