C136F (p.Cys136Phe) variant of FBN1 (Fibrillin-1)
C136F (p.Cys136Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ectopia lentis 1, isolated, autosomal dominant; Stiff skin syndrome; Geleophysic. The record also includes published literature.
C136F (p.Cys136Phe) variant details
- p.Cys136Phe
- rs2505760991
- ClinGen CA392446506
- ClinVar RCV003783676
- ClinVar RCV004796844
- Pathogenic/Likely pathogenic
- Ectopia lentis 1, isolated, autosomal dominant; Stiff skin syndrome; Geleophysic
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Ectopia lentis 1, isolated, autosomal dominant; Stiff skin syndr)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)