FBN1 c.2489G>T ;(p.C830F)

Variant ID: 15-48787716-C-A

NM_000138.4(FBN1):c.2489G>T;(p.C830F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Journal Of Translational Medicine
Ponińska, Joanna Kinga JK; Bilińska, Zofia Teresa ZT; Truszkowska, Grażyna G; Michalak, Ewa E; Podgórska, Anna A; Stępień-Wojno, Małgorzata M; Chmielewski, Przemysław P; Lutyńska, Anna A; Płoski, Rafał R
Publication Date: 2022-01-25

Variant appearance in text: FBN1: 2489G>T; Cys830Phe
PubMed Link: 35078481
Variant Present in the following documents:
  • 12967_2022_3251_MOESM1_ESM.pdf
View BVdb publication page