Variant ID: 9-79959195-GA-CT

NM_015186.3(VPS13A):c.7153_7154delinsCT;(p.Glu2385Leu)

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: VPS13A: E2385L
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.7153_7154delinsCT p.Glu2385Leu missense_variant,splice_region_variant 51/69 -
ENST00000360280.3 c.7153_7154delinsCT p.Glu2385Leu missense_variant,splice_region_variant 51/72 -
ENST00000376634.4 c.7153_7154delinsCT p.Glu2385Leu missense_variant,splice_region_variant 51/69 -
ENST00000376636.3 c.7036_7037delinsCT p.Glu2346Leu missense_variant,splice_region_variant 50/71 -
NM_001018037.2 c.7036_7037delinsCT p.Glu2346Leu missense_variant,splice_region_variant 50/71 -
NM_001018038.2 c.7153_7154delinsCT p.Glu2385Leu missense_variant,splice_region_variant 51/69 -
NM_015186.3 c.7153_7154delinsCT p.Glu2385Leu missense_variant,splice_region_variant 51/69 -
NM_033305.3 c.7153_7154delinsCT p.Glu2385Leu missense_variant,splice_region_variant 51/72 -