I40N (p.Ile40Asn) variant of TGFB2 (P61812)
I40N (p.Ile40Asn) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The record also includes published literature and structural context.
I40N (p.Ile40Asn) variant details
- p.Ile40Asn
- rs2102527486
- ClinGen CA344725328
- ClinVar RCV001763662
- ClinVar RCV004671432
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)