C2153Y (p.Cys2153Tyr) variant of FBN1 (Fibrillin-1)
C2153Y (p.Cys2153Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome. The record also includes published literature.
C2153Y (p.Cys2153Tyr) variant details
- p.Cys2153Tyr
- UniProt VAR 076121
- Likely pathogenic
- Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome
- Missense
- ClinVar: Likely pathogenic (Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy sy)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (PMID 17657824)
- Cited in: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. (PMID 10425041)