C1374Y (p.Cys1374Tyr) variant of FBN1 (Fibrillin-1)
C1374Y (p.Cys1374Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Weill-Marchesani syndrome 2, dominant; Geleophysic dysplasia 2; Progeroid and ma. The record also includes variant effect predictions and published literature.
C1374Y (p.Cys1374Tyr) variant details
- p.Cys1374Tyr
- rs2141279835
- ClinGen CA392320310
- ClinVar RCV002007163
- ClinVar RCV002492115
- Pathogenic
- Weill-Marchesani syndrome 2, dominant; Geleophysic dysplasia 2; Progeroid and ma
- Missense
- MutPred 1.00
- ClinVar: Pathogenic (Weill-Marchesani syndrome 2, dominant; Geleophysic dysplasia 2;)
- 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)