Variant ID: 1-55524842-G-A

NM_174936.3(PCSK9):c.1504-317G>A

This variant was identified in 3 publications



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

Publications:

Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Neural Regeneration Research
DF Han, JH Ma, CG Hao, Tuerhong Tuerxun, L Du, XN Zhang
Publication Date: 2017-08

Variant appearance in text: rs568052
PMID: 28966647
View BVdb publication page


Exploring the interaction between SNP genotype and postmenopausal hormone therapy effects on stroke risk.

Genome Medicine
Y Huang, DG Ballinger, R Stokowski, E Beilharz, JG Robinson, S Liu, RD Robinson, VW Henderson, JE Rossouw, RL Prentice
Publication Date: 2012

Variant appearance in text: rs568052
PMID: 22794791
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: rs568052
PMID: 20699424
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1504-317G>A - intron_variant - 9/11
ENST00000490692.1 n.2227+522G>A - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*51-317G>A - intron_variant - 7/9
NM_174936.4 c.1504-317G>A - intron_variant - 9/11
NR_110451.1 n.1111-317G>A - intron_variant,non_coding_transcript_variant - 7/9