Variant ID: 1-55505713-C-A

NM_174936.3(PCSK9):c.203C>A;(p.Ala68Asp)

This variant was identified in 1 publication




Publications:


Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
JB Nielsen, O Rom, I Surakka, SE Graham, W Zhou, T Roychowdhury, LG Fritsche, SA Gagliano Taliun, C Sidore, Y Liu, ME Gabrielsen, AH Skogholt, B Wolford, W Overton, Y Zhao, J Chen, H Zhang, WE Hornsby, A Acheampong, A Grooms, A Schaefer, GJM Zajac, L Villacorta, J Zhang, B Brumpton, M Løset, V Rai, PR Lundegaard, MS Olesen, KD Taylor, ND Palmer, YD Chen, SH Choi, SA Lubitz, PT Ellinor, KC Barnes, M Daya, N Rafaels, ST Weiss, J Lasky-Su, RP Tracy, RS Vasan, LA Cupples, RA Mathias, LR Yanek, LC Becker, PA Peyser, LF Bielak, JA Smith, S Aslibekyan, BA Hidalgo, DK Arnett, MR Irvin, JG Wilson, SK Musani, A Correa, SS Rich, X Guo, JI Rotter, BA Konkle, JM Johnsen, AE Ashley-Koch, MJ Telen, VA Sheehan, J Blangero, JE Curran, JM Peralta, C Montgomery, WH Sheu, RH Chung, K Schwander, SM Nouraie, VR Gordeuk, Y Zhang, C Kooperberg, AP Reiner, RD Jackson, ER Bleecker, DA Meyers, X Li, S Das, K Yu, J LeFaive, A Smith, T Blackwell, D Taliun, S Zollner, L Forer, S Schoenherr, C Fuchsberger, A Pandit, M Zawistowski, S Kheterpal, CM Brummett, P Natarajan, D Schlessinger, S Lee, HM Kang, F Cucca, OL Holmen, BO Åsvold, M Boehnke, S Kathiresan, GR Abecasis, YE Chen, CJ Willer, K Hveem
Publication Date: 2020-12-18

Variant appearance in text: PCSK9: A68D
PubMed Link: 33339817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.203C>A p.Ala68Asp missense_variant 1/12 -
ENST00000452118.2 c.203C>A p.Ala68Asp missense_variant 1/6 -
NM_174936.4 c.203C>A p.Ala68Asp missense_variant 1/12 -