FBN1 c.5579G>T ;(p.C1860F)

Variant ID: 15-48741057-C-A

NM_000138.4(FBN1):c.5579G>T;(p.C1860F)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports
Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R
Publication Date: 2017-08-30

Variant appearance in text: FBN1: 5579G>T; Cys1860Phe
PubMed Link: 28855619
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9785.pdf
View BVdb publication page