D723G (p.Asp723Gly) variant of FBN1 (Fibrillin-1)
D723G (p.Asp723Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan syndrome; not provided. The record also includes variant effect predictions and published literature.
D723G (p.Asp723Gly) variant details
- p.Asp723Gly
- rs137854463
- ClinGen CA392335948
- ClinVar RCV001843986
- ClinVar RCV006705596
- Likely pathogenic
- Marfan syndrome; not provided
- Missense
- MutPred 0.94
- ClinVar: Likely pathogenic (Marfan syndrome; not provided)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)