FBN1 c.2125G>A ;(p.A709T)

Variant ID: 15-48791224-C-T

NM_000138.4(FBN1):c.2125G>A;(p.A709T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

The Journal Of Bone And Joint Surgery. American Volume
Haller, Gabe G; Alvarado, David M DM; Willing, Marcia C MC; Braverman, Alan C AC; Bridwell, Keith H KH; Kelly, Michael M; Lenke, Lawrence G LG; Luhmann, Scott J SJ; Gurnett, Christina A CA; Dobbs, Matthew B MB
Publication Date: 2015-09-02

Variant appearance in text: FBN1: A709T
PubMed Link: 26333736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: FBN1: A709T
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page