K54Q (p.Lys54Gln) variant of FBN1 (Fibrillin-1)
K54Q (p.Lys54Gln) 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.
K54Q (p.Lys54Gln) variant details
- p.Lys54Gln
- rs2505821721
- ClinGen CA392453431
- ClinVar RCV004012991
- Uncertain significance
- Marfan syndrome
- Missense
- ClinVar: Uncertain significance (Marfan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)