A39D (p.Ala39Asp) variant of FBN1 (Fibrillin-1)
A39D (p.Ala39Asp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Marfan syndrome. The record also includes published literature.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- rs2505821956
- ClinGen CA392453611
- ClinVar RCV004015471
- Uncertain significance
- Marfan syndrome
- Missense
- ClinVar: Uncertain significance (Marfan syndrome)
- EBI: Variant of uncertain significance (found in a patient with Marfan-like syndrome)
- UniProt: Uncertain significance (found in a patient with Marfan-like syndrome)
- 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)