Variant ID: 9-79917908-G-A


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: VPS13A: R1297Q
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
ENST00000357409.5 c.3890G>A p.Arg1297Gln missense_variant 34/69 -
ENST00000360280.3 c.3890G>A p.Arg1297Gln missense_variant 34/72 -
ENST00000376634.4 c.3890G>A p.Arg1297Gln missense_variant 34/69 -
ENST00000376636.3 c.3773G>A p.Arg1258Gln missense_variant 33/71 -
ENST00000423463.2 n.1180G>A - non_coding_transcript_exon_variant 9/17 -
ENST00000493341.1 c.398G>A p.Arg133Gln missense_variant,NMD_transcript_variant 3/12 -
NM_001018037.2 c.3773G>A p.Arg1258Gln missense_variant 33/71 -
NM_001018038.2 c.3890G>A p.Arg1297Gln missense_variant 34/69 -
NM_015186.3 c.3890G>A p.Arg1297Gln missense_variant 34/69 -
NM_033305.3 c.3890G>A p.Arg1297Gln missense_variant 34/72 -