Variant ID: 1-55524601-G-C

NM_174936.3(PCSK9):c.1503+281G>C

This variant was identified in 2 publications




Publications:


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: rs565436
PMID: 23900982
View BVdb publication page



Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.

Plos One
SH Lye, JK Chahil, P Bagali, L Alex, J Vadivelu, WA Ahmad, SP Chan, MK Thong, SM Zain, R Mohamed
Publication Date: 2013

Variant appearance in text: N/A
PMID: 23593297
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1503+281G>C - intron_variant - 9/11
ENST00000490692.1 n.2227+281G>C - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*50+281G>C - intron_variant - 7/9
NM_174936.4 c.1503+281G>C - intron_variant - 9/11
NR_110451.1 n.1110+281G>C - intron_variant,non_coding_transcript_variant - 7/9