FBN1 c.5417G>A ;(p.C1806Y)

Variant ID: 15-48748839-C-T

NM_000138.4(FBN1):c.5417G>A;(p.C1806Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

Journal Of Cardiovascular Translational Research
Landis, Benjamin J BJ; Schubert, Jeffrey A JA; Lai, Dongbing D; Jegga, Anil G AG; Shikany, Amy R AR; Foroud, Tatiana T; Ware, Stephanie M SM; Hinton, Robert B RB
Publication Date: 2017-08

Variant appearance in text: FBN1: Cys1806Tyr
PubMed Link: 28550590
Variant Present in the following documents:
  • Main text
View BVdb publication page