N1046S (p.Asn1046Ser) variant of FBN1 (Fibrillin-1)
N1046S (p.Asn1046Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Marfan syndrome; Ectopia lentis 1, isolated, autosomal dominant. The record also includes variant effect predictions and published literature.
N1046S (p.Asn1046Ser) variant details
- p.Asn1046Ser
- rs2141295239
- ClinGen CA392328123
- ClinVar RCV001808060
- ClinVar RCV001843963
- Likely pathogenic
- not provided; Marfan syndrome; Ectopia lentis 1, isolated, autosomal dominant
- Missense
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided; Marfan syndrome; Ectopia lentis 1, isolated, autos)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)