Q79R (p.Gln79Arg) variant of FBN1 (Fibrillin-1)
Q79R (p.Gln79Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection.
Q79R (p.Gln79Arg) variant details
- p.Gln79Arg
- TOPMed rs1338775496
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- UniProt: Uncertain significance