Variant ID: 1-55524116-C-T

NM_174936.3(PCSK9):c.1355-56C>T

This variant was identified in 4 publications



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

Publications:

Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama
J Yarmolinsky, CJ Bull, EE Vincent, J Robinson, A Walther, GD Smith, SJ Lewis, CL Relton, RM Martin
Publication Date: 2020-02-18

Variant appearance in text: rs585131
PMID: 32068819
View BVdb publication page


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: rs585131
PMID: 27853278
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: rs585131
PMID: 18300938
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1355-56C>T - intron_variant - 8/11
ENST00000490692.1 n.2079-56C>T - intron_variant,non_coding_transcript_variant - 5/7
ENST00000543384.1 c.703-56C>T - intron_variant - 6/9
NM_174936.4 c.1355-56C>T - intron_variant - 8/11
NR_110451.1 n.962-56C>T - intron_variant,non_coding_transcript_variant - 6/9