Q80R (p.Gln80Arg) variant of FBN2 (Fibrillin-2)
Q80R (p.Gln80Arg) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q80R (p.Gln80Arg) variant details
- p.Gln80Arg
- rs2479827419
- ClinGen CA360761836
- ClinVar RCV003642193
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)