Q10H (p.Gln10His) variant of FBN2 (Fibrillin-2)
Q10H (p.Gln10His) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- rs2479828241
- ClinGen CA360763432
- ClinVar RCV003397756
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available