T14N (p.Thr14Asn) variant of FBN1 (Fibrillin-1)
T14N (p.Thr14Asn) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- rs2505822290
- ClinGen CA2580089588
- ClinVar RCV003027265
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)