C2000F (p.Cys2000Phe) variant of FBN1 (Fibrillin-1)
C2000F (p.Cys2000Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Connective tissue disorder; not provided.
C2000F (p.Cys2000Phe) variant details
- p.Cys2000Phe
- rs1555395645
- ClinGen CA392339676
- NCI-TCGA Cosmic COSV5731
- ClinVar RCV001548488
- Likely pathogenic
- Connective tissue disorder; not provided
- Missense
- ClinVar: Likely pathogenic (Connective tissue disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic