G234C (p.Gly234Cys) variant of FBN1 (Fibrillin-1)
G234C (p.Gly234Cys) 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; Familial thoracic aortic aneurysm and aortic dissection; Marfan.
G234C (p.Gly234Cys) variant details
- p.Gly234Cys
- rs794728293
- ClinGen CA016931
- ClinVar RCV000181648
- Ensembl rs794728293
- Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; Marfan
- Missense
- ClinVar: Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic