FBN1 c.2728G>C ;(p.D910H)

Variant ID: 15-48786401-C-G

NM_000138.4(FBN1):c.2728G>C;(p.D910H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.

Bmc Medical Genomics
Beil, Adelyn A; Hornsby, Whitney W; Uhlmann, Wendy R WR; Aatre, Rajani R; Arscott, Patricia P; Wolford, Brooke B; Eagle, Kim A KA; Yang, Bo B; McNamara, Jennifer J; Willer, Cristen C; Roberts, J Scott JS
Publication Date: 2021-03-01

Variant appearance in text: FBN1: Asp910His
PubMed Link: 33648514
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_902.pdf
View BVdb publication page



Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

Circulation. Genomic And Precision Medicine
Wolford, Brooke N BN; Hornsby, Whitney E WE; Guo, Dongchuan D; Zhou, Wei W; Lin, Maoxuan M; Farhat, Linda L; McNamara, Jennifer J; Driscoll, Anisa A; Wu, Xiaoting X; Schmidt, Ellen M EM; Norton, Elizabeth L EL; Mathis, Michael R MR; Ganesh, Santhi K SK; Douville, Nicholas J NJ; Brummett, Chad M CM; Kitzman, Jacob J; Chen, Y Eugene YE; Kim, Karen K; Deeb, G Michael GM; Patel, Himanshu H; Eagle, Kim A KA; Milewicz, Dianna M DM; J Willer, Cristen C; Yang, Bo B
Publication Date: 2019-06

Variant appearance in text: FBN1: D910H
PubMed Link: 31211624
Variant Present in the following documents:
  • Main text
View BVdb publication page