Variant ID: 1-55529232-C-T


This variant was identified in 1 publication


Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology.

Journal Of Atherosclerosis And Thrombosis
H Tada, S Usui, K Sakata, M Takamura, MA Kawashiri
Publication Date: 2020-04-30

Variant appearance in text: PCSK9: 2054C>T
PMID: 32350167
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2054C>T p.Ala685Val missense_variant 12/12 -
ENST00000490692.1 n.2600C>T - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2054C>T p.Ala685Val missense_variant 12/12 -
NR_110451.1 n.1661C>T - non_coding_transcript_exon_variant 10/10 -