Variant ID: 1-55523361-A-G

NM_174936.3(PCSK9):c.1180+174A>G

This variant was identified in 3 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

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: rs533375
PMID: 27853278
View BVdb publication page


APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema.

The European Respiratory Journal
KM Burkart, A Manichaikul, JB Wilk, FS Ahmed, GL Burke, P Enright, NN Hansel, D Haynes, SR Heckbert, EA Hoffman, JD Kaufman, J Kurai, L Loehr, SJ London, Y Meng, GT O'Connor, E Oelsner, M Petrini, TD Pottinger, CA Powell, S Redline, JI Rotter, LJ Smith, M Soler Artigas, MD Tobin, MY Tsai, K Watson, W White, TR Young, SS Rich, RG Barr
Publication Date: 2014-04

Variant appearance in text: rs533375
PMID: 23900982
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: rs533375
PMID: 18300938
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1180+174A>G - intron_variant - 7/11
ENST00000490692.1 n.1904+174A>G - intron_variant,non_coding_transcript_variant - 4/7
ENST00000543384.1 c.580+174A>G - intron_variant - 5/9
NM_174936.4 c.1180+174A>G - intron_variant - 7/11
NR_110451.1 n.839+174A>G - intron_variant,non_coding_transcript_variant - 5/9