Variant ID: 1-55523855-G-C

NM_174936.3(PCSK9):c.1327G>C;(p.Ala443Pro)

This variant was identified in 1 publication




Publications:


Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
Publication Date: 2020-03-30

Variant appearance in text: rs28362263
PMID: 32226016
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1327G>C p.Ala443Pro missense_variant 8/12 -
ENST00000490692.1 n.2051G>C - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+25G>C - intron_variant - 6/9
NM_174936.4 c.1327G>C p.Ala443Pro missense_variant 8/12 -
NR_110451.1 n.961+25G>C - intron_variant,non_coding_transcript_variant - 6/9