G313R (p.Gly313Arg) variant of F13A1 (Coagulation factor XIII A chain)
G313R (p.Gly313Arg) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor XIII, A subunit, deficiency of. The record also includes structural context.
G313R (p.Gly313Arg) variant details
- p.Gly313Arg
- rs2480618246
- ClinGen CA362739933
- ClinVar RCV003126312
- Likely pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- ClinVar: Likely pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available