Variant ID: 15-48888525-G-C

NM_000138.4(FBN1):c.493C>G;(p.Arg165Gly)

This variant was identified in 1 publication




Publications:


Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000316623.5 c.493C>G p.Arg165Gly missense_variant 6/66 -
ENST00000537463.2 c.493C>G p.Arg165Gly missense_variant,NMD_transcript_variant 6/31 -
NM_000138.4 c.493C>G p.Arg165Gly missense_variant 6/66 -