Variant ID: 1-55518037-G-A


This variant was identified in 2 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
PMID: 32009526
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
PMID: 26036859
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 -