Variant ID: 1-55509520-C-T

NM_174936.3(PCSK9):c.212C>T;(p.Pro71Leu)

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: Pro71Leu
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.212C>T p.Pro71Leu missense_variant 2/12 -
ENST00000452118.2 c.212C>T p.Pro71Leu missense_variant 2/6 -
ENST00000543384.1 c.-78+3444C>T - intron_variant - 1/9
NM_174936.4 c.212C>T p.Pro71Leu missense_variant 2/12 -
NR_110451.1 n.182+3444C>T - intron_variant,non_coding_transcript_variant - 1/9