Variant ID: 3-114018467-C-T

NM_173799.3(TIGIT):c.415C>T;(p.Gln139*)

This variant was identified in 1 publication




Publications:


Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
Publication Date: 2016-08

Variant appearance in text: TIGIT: Q139*
PubMed Link: 27422940
Variant Present in the following documents:
  • NIHMS803853-supplement-001410_-_Supplemental_Material.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000383671.3 c.415C>T p.Gln139* stop_gained 3/4 -
ENST00000461158.1 c.352C>T p.Gln118* stop_gained 3/4 -
ENST00000481065.1 c.616C>T p.Gln206* stop_gained 4/5 -
ENST00000484319.1 c.352C>T p.Gln118* stop_gained 3/4 -
ENST00000486257.1 c.415C>T p.Gln139* stop_gained 4/5 -
NM_173799.4 c.415C>T p.Gln139* stop_gained 3/4 -