G46A (p.Gly46Ala) variant of FBN1 (Fibrillin-1)
G46A (p.Gly46Ala) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- Ensembl rs1064797198
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance