F1912C (p.Phe1912Cys) variant of FBN1 (Fibrillin-1)
F1912C (p.Phe1912Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Isolated thoracic aortic aneurysm.
F1912C (p.Phe1912Cys) variant details
- p.Phe1912Cys
- rs1555395830
- ClinGen CA392341226
- ClinVar RCV001374844
- Ensembl rs1555395830
- Likely pathogenic
- Isolated thoracic aortic aneurysm
- Missense
- ClinVar: Likely pathogenic (Isolated thoracic aortic aneurysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic