Variant ID: 1-55518037-G-A

NM_174936.3(PCSK9):c.610G>A;(p.Asp204Asn)

This variant was identified in 3 publications




Publications:


Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association
TD Pottinger, MJ Puckelwartz, LL Pesce, A Robinson, S Kearns, JA Pacheco, LJ Rasmussen-Torvik, ME Smith, R Chisholm, EM McNally
Publication Date: 2020-02-04

Variant appearance in text: PCSK9: Asp204Asn
PubMed Link: 32009526
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: PCSK9: Asp204Asn
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: PCSK9: 610G>A; D204N
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.610G>A p.Asp204Asn missense_variant 4/12 -
ENST00000452118.2 c.*254G>A - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1431G>A - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.10G>A p.Asp4Asn missense_variant 2/10 -
NM_174936.4 c.610G>A p.Asp204Asn missense_variant 4/12 -
NR_110451.1 n.269G>A - non_coding_transcript_exon_variant 2/10 -