FBN1 c.319A>C ;(p.I107L)

Variant ID: 15-48902952-T-G

NM_000138.4(FBN1):c.319A>C;(p.I107L)

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: I107L
PubMed Link: 26333736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Human Molecular Genetics
Buchan, Jillian G JG; Alvarado, David M DM; Haller, Gabe E GE; Cruchaga, Carlos C; Harms, Matthew B MB; Zhang, Tianxiao T; Willing, Marcia C MC; Grange, Dorothy K DK; Braverman, Alan C AC; Miller, Nancy H NH; Morcuende, Jose A JA; Tang, Nelson Leung-Sang NL; Lam, Tsz-Ping TP; Ng, Bobby Kin-Wah BK; Cheng, Jack Chun-Yiu JC; Dobbs, Matthew B MB; Gurnett, Christina A CA
Publication Date: 2014-10-01

Variant appearance in text: FBN1: Ile107Leu
PubMed Link: 24833718
Variant Present in the following documents:
  • Main text
View BVdb publication page