Variant ID: 1-55505599-C-G

NM_174936.3(PCSK9):c.89C>G;(p.Ala30Gly)

This variant was identified in 1 publication




Publications:


Individuals with familial hypercholesterolemia and cardiovascular events have higher circulating Lp(a) levels.

Journal Of Clinical Lipidology
C Pavanello, C Pirazzi, K Bjorkman, J Sandstedt, C Tarlarini, L Mosca, S Romeo, L Calabresi, RM Mancina
Publication Date: 2019

Variant appearance in text: PCSK9: Ala30Gly
PubMed Link: 31371270
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.89C>G p.Ala30Gly missense_variant 1/12 -
ENST00000452118.2 c.89C>G p.Ala30Gly missense_variant 1/6 -
NM_174936.4 c.89C>G p.Ala30Gly missense_variant 1/12 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -