Variant ID: 1-55519174-G-C

NM_174936.3(PCSK9):c.799+710G>C

This variant was identified in 3 publications




Publications:


Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.

Circulation. Genomic And Precision Medicine
BM Brumpton, LG Fritsche, J Zheng, JB Nielsen, M Mannila, I Surakka, H Rasheed, GÅ Vie, SE Graham, ME Gabrielsen, LE Laugsand, P Aukrust, LJ Vatten, JK Damås, T Ueland, I Janszky, JA Zwart, FM Van't Hooft, NG Seidah, K Hveem, C Willer, GD Smith, BO Åsvold,
Publication Date: 2019-01

Variant appearance in text: rs499883
PMID: 30645169
View BVdb publication page



Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
K Musunuru, SP Romaine, G Lettre, JG Wilson, KA Volcik, MY Tsai, HA Taylor, PJ Schreiner, JI Rotter, SS Rich, S Redline, BM Psaty, GJ Papanicolaou, JM Ordovas, K Liu, RM Krauss, NL Glazer, SB Gabriel, M Fornage, LA Cupples, SG Buxbaum, E Boerwinkle, CM Ballantyne, S Kathiresan, DJ Rader
Publication Date: 2012

Variant appearance in text: N/A
PMID: 22629316
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: rs499883
PMID: 18300938
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.799+710G>C - intron_variant - 5/11
ENST00000490692.1 n.1620+710G>C - intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.199+710G>C - intron_variant - 3/9
NM_174936.4 c.799+710G>C - intron_variant - 5/11
NR_110451.1 n.458+710G>C - intron_variant,non_coding_transcript_variant - 3/9