FBN1 c.6850C>A ;(p.P2284T)

Variant ID: 15-48722889-G-T

NM_000138.4(FBN1):c.6850C>A;(p.P2284T)

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:

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype.

Biomed Research International
Sticchi, Elena E; De Cario, Rosina R; Magi, Alberto A; Giglio, Sabrina S; Provenzano, Aldesia A; Nistri, Stefano S; Pepe, Guglielmina G; Giusti, Betti B
Publication Date: 2018

Variant appearance in text: FBN1: 6850C>A
PubMed Link: 30255099
Variant Present in the following documents:
  • Main text
  • BMRI2018-8386123.pdf
View BVdb publication page