Variant ID: 1-55505652-G-A

NM_174936.3(PCSK9):c.142G>A;(p.Glu48Lys)

This variant was identified in 1 publication




Publications:


Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: PCSK9: Glu48Lys
PubMed Link: 26374825
Variant Present in the following documents:
  • hcg-8-823-s001.pdf
  • hcg-8-823-s003.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.142G>A p.Glu48Lys missense_variant 1/12 -
ENST00000452118.2 c.142G>A p.Glu48Lys missense_variant 1/6 -
NM_174936.4 c.142G>A p.Glu48Lys missense_variant 1/12 -