Variant ID: 1-55527479-A-G

NM_174936.3(PCSK9):c.1863+250A>G

This variant was identified in 3 publications




Publications:


PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association
JP Ferreira, C Xhaard, Z Lamiral, M Borges-Canha, JS Neves, C Dandine-Roulland, E LeFloch, JF Deleuze, D Bacq-Daian, E Bozec, N Girerd, JM Boivin, F Zannad, P Rossignol
Publication Date: 2020-04-07

Variant appearance in text: rs631220
PMID: 32208829
View BVdb publication page



Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal Of Lipid Research
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
Publication Date: 2010-11

Variant appearance in text: rs631220
PMID: 20699424
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: rs631220
PMID: 18300938
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1863+250A>G - intron_variant - 11/11
ENST00000490692.1 n.2409+250A>G - intron_variant,non_coding_transcript_variant - 7/7
ENST00000543384.1 c.*410+250A>G - intron_variant - 9/9
NM_174936.4 c.1863+250A>G - intron_variant - 11/11
NR_110451.1 n.1470+250A>G - intron_variant,non_coding_transcript_variant - 9/9