S110C (p.Ser110Cys) variant of FBN1 (Fibrillin-1)
S110C (p.Ser110Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Weill-Marchesani syndrome 2, dominant. The record also includes published literature.
S110C (p.Ser110Cys) variant details
- p.Ser110Cys
- rs2505775608
- ClinGen CA392446856
- ClinVar RCV003307351
- Likely pathogenic
- Weill-Marchesani syndrome 2, dominant
- Missense
- ClinVar: Likely pathogenic (Weill-Marchesani syndrome 2, dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Weill-Marchesani Syndrome. (PMID 20301293)