Variant ID: 1-53786149-T-A

NM_004631.4(LRP8):c.244+6396A>T

This variant was identified in 2 publications




Publications:


Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports
T Guo, RX Yin, LM Yao, F Huang, L Pan, WX Lin, DZ Yang, SL Pan
Publication Date: 2016-11-17

Variant appearance in text: rs1288519
PubMed Link: 27853278
Variant Present in the following documents:
  • Main text
View BVdb publication page



Convergent Lines of Evidence Support LRP8 as a Susceptibility Gene for Psychosis.

Molecular Neurobiology
M Li, L Huang, M Grigoroiu-Serbanescu, SE Bergen, M Landén, CM Hultman, AJ Forstner, J Strohmaier, J Hecker, TG Schulze, B Müller-Myhsok, A Reif, PB Mitchell, NG Martin, S Cichon, MM Nöthen, A Alkelai, B Lerer, S Jamain, M Leboyer, F Bellivier, B Etain, JP Kahn, C Henry, M Rietschel, ,
Publication Date: 2016-12

Variant appearance in text: rs1288519
PubMed Link: 26637325
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000306052.6 c.244+6396A>T - intron_variant - 2/18
ENST00000347547.2 c.244+6396A>T - intron_variant - 2/16
ENST00000354412.3 c.244+6396A>T - intron_variant - 2/15
ENST00000371454.2 c.244+6396A>T - intron_variant - 2/17
ENST00000465675.1 c.-585+6396A>T - intron_variant - 2/15
ENST00000480045.1 c.244+6396A>T - intron_variant,NMD_transcript_variant - 2/19
ENST00000496580.1 n.149+6396A>T - intron_variant,non_coding_transcript_variant - 2/2
NM_001018054.3 c.244+6396A>T - intron_variant - 2/17
NM_004631.5 c.244+6396A>T - intron_variant - 2/18
NM_017522.5 c.244+6396A>T - intron_variant - 2/15
NM_033300.4 c.244+6396A>T - intron_variant - 2/16