FBN1 c.1586G>A ;(p.R529Q)

Variant ID: 15-48805748-C-T

NM_000138.4(FBN1):c.1586G>A;(p.R529Q)

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 fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.

Bmc Medical Genetics
Pepe, Guglielmina G; Nistri, Stefano S; Giusti, Betti B; Sticchi, Elena E; Attanasio, Monica M; Porciani, Cristina C; Abbate, Rosanna R; Bonow, Robert O RO; Yacoub, Magdi M; Gensini, Gian Franco GF
Publication Date: 2014-02-24

Variant appearance in text: FBN1: 1586G>A; Arg529Gln
PubMed Link: 24564502
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-23.pdf
View BVdb publication page