C734R (p.Cys734Arg) variant of FBN1 (Fibrillin-1)
C734R (p.Cys734Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ectopia lentis 1, isolated, autosomal dominant; Acromicric dysplasia; MASS syndr. The record also includes variant effect predictions and published literature.
C734R (p.Cys734Arg) variant details
- p.Cys734Arg
- rs2141306513
- ClinGen CA392335784
- ClinVar RCV002208740
- Ensembl rs2141306513
- Likely pathogenic
- Ectopia lentis 1, isolated, autosomal dominant; Acromicric dysplasia; MASS syndr
- Missense
- MutPred 0.99
- ClinVar: Likely pathogenic (Ectopia lentis 1, isolated, autosomal dominant; Acromicric dyspl)
- EBI: Likely pathogenic (in MFS)
- UniProt: Likely pathogenic (in MFS)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Geleophysic Dysplasia. (PMID 20301776)