C1117F (p.Cys1117Phe) variant of FBN1 (Fibrillin-1)
C1117F (p.Cys1117Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Geleophysic dysplasia 2. The record also includes published literature.
C1117F (p.Cys1117Phe) variant details
- p.Cys1117Phe
- rs137854470
- ClinGen CA392326757
- ClinVar RCV004798953
- Pathogenic
- Geleophysic dysplasia 2
- Missense
- ClinVar: Pathogenic (Geleophysic dysplasia 2)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Geleophysic Dysplasia. (PMID 20301776)