Variant ID: 2-189861145-C-T

NM_000090.3(COL3A1):c.1684C>T;(p.Arg562*)

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: COL3A1: Arg562*; rs375737772
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000304636.3 c.1684C>T p.Arg562* stop_gained 24/51 -
ENST00000317840.5 c.1684C>T p.Arg562* stop_gained 24/42 -
NM_000090.3 c.1684C>T p.Arg562* stop_gained 24/51 -