R302C (p.Arg302Cys) variant of TGFB2 (P61812)
R302C (p.Arg302Cys) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Loeys-Dietz syndrome 4; Loeys-Dietz syndrome. The record also includes published literature and structural context.
R302C (p.Arg302Cys) variant details
- p.Arg302Cys
- rs869312903
- ClinGen CA354091
- ClinVar RCV000210476
- ClinVar RCV000255040
- Pathogenic/Likely pathogenic
- not provided; Loeys-Dietz syndrome 4; Loeys-Dietz syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Loeys-Dietz syndrome 4; Loeys-Dietz syndrome)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- Structural context available
- Cited in: Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. (PMID 22772368)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)