C119G (p.Cys119Gly) variant of FBN1 (Fibrillin-1)
C119G (p.Cys119Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided; Ectopia lentis 1, isolated, autosomal dominant.
C119G (p.Cys119Gly) variant details
- p.Cys119Gly
- NCI-TCGA Cosmic COSV5732
- Pathogenic
- not provided; Ectopia lentis 1, isolated, autosomal dominant
- Missense
- ClinVar: Pathogenic (not provided; Ectopia lentis 1, isolated, autosomal dominant)
- UniProt: Pathogenic