Variant ID: 1-55529132-A-G


This variant was identified in 1 publication


Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen
Publication Date: 2019-04-11

Variant appearance in text: PCSK9: 1954A>G; Asn652Asp
PubMed Link: 30971288
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1954A>G p.Asn652Asp missense_variant 12/12 -
ENST00000490692.1 n.2500A>G - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.1954A>G p.Asn652Asp missense_variant 12/12 -
NR_110451.1 n.1561A>G - non_coding_transcript_exon_variant 10/10 -