FBN1 c.493C>G ;(p.R165G)

Variant ID: 15-48888525-G-C

NM_000138.4(FBN1):c.493C>G;(p.R165G)

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:

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
Jamuar, Saumya Shekhar SS; Kuan, Jyn Ling JL; Brett, Maggie M; Tiang, Zenia Z; Tan, Wilson Lek Wen WL; Lim, Jiin Ying JY; Liew, Wendy Kein Meng WK; Javed, Asif A; Liew, Woei Kang WK; Law, Hai Yang HY; Tan, Ee Shien ES; Lai, Angeline A; Ng, Ivy I; Teo, Yik Ying YY; Venkatesh, Byrappa B; Reversade, Bruno B; Tan, Ene Choo EC; Foo, Roger R
Publication Date: 2016-03

Variant appearance in text: FBN1: Arg165Gly; rs113905529
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page