Variant ID: 1-55527158-G-A


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: 1792G>A; Ala598Thr
PMID: 30971288
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1792G>A p.Ala598Thr missense_variant 11/12 -
ENST00000490692.1 n.2338G>A - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*339G>A - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1792G>A p.Ala598Thr missense_variant 11/12 -
NR_110451.1 n.1399G>A - non_coding_transcript_exon_variant 9/10 -