Variant ID: 6-7889012-GTG-G


This variant was identified in 1 publication


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: TXNDC5: T297Rfs*19
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
ENST00000379757.4 c.887_888del p.Arg296Hisfs*20 frameshift_variant 7/10 -
ENST00000439343.2 c.*585_*586del - 3_prime_UTR_variant,NMD_transcript_variant 10/13 -
ENST00000460138.1 n.665_666del - non_coding_transcript_exon_variant 1/4 -
ENST00000473453.1 c.563_564del p.Arg188Hisfs*20 frameshift_variant 7/10 -
ENST00000475802.1 n.181_182del - non_coding_transcript_exon_variant 1/4 -
ENST00000539054.1 c.671_672del p.Arg224Hisfs*20 frameshift_variant 7/10 -
NM_001145549.3 c.563_564del p.Arg188Hisfs*20 frameshift_variant 7/10 -
NM_030810.5 c.887_888del p.Arg296Hisfs*20 frameshift_variant 7/10 -
NR_037616.1 n.1046_1047del - non_coding_transcript_exon_variant 10/13 -