Variant ID: 1-55512222-C-T

NM_174936.3(PCSK9):c.426C>T;(p.Tyr142Tyr)

This variant was identified in 2 publications




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: N/A
PMID: 32226016
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
Publication Date: 2019

Variant appearance in text: rs67608943
PMID: 30774981
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.426C>T p.Tyr142= synonymous_variant 3/12 -
ENST00000452118.2 c.426C>T p.Tyr142= synonymous_variant 3/6 -
ENST00000543384.1 c.-77-5729C>T - intron_variant - 1/9
NM_174936.4 c.426C>T p.Tyr142= synonymous_variant 3/12 -
NR_110451.1 n.183-5729C>T - intron_variant,non_coding_transcript_variant - 1/9