PMID: 34075144

Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors.

Scientific reports
Gai, Min-Tao MT, Adi, Dilare D, Chen, Xiao-Cui XC, Liu, Fen F, Xie, Xiang X, Yang, Yi-Ning YN, Gao, Xiao-Ming XM, Ma, Xiang X, Fu, Zhen-Yan ZY, Ma, Yi-Tong YT, Chen, Bang-Dang BD
2021-06-01

7 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505668-C-G PCSK9 c.158C>G p.A53G Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11