Variant ID: 1-55525202-G-T

NM_174936.3(PCSK9):c.1547G>T;(p.Gly516Val)

This variant was identified in 1 publication




Publications:


Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: PCSK9: 1547G>T; Gly516Val
PMID: 26802169
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1547G>T p.Gly516Val missense_variant 10/12 -
ENST00000490692.1 n.2227+882G>T - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*94G>T - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1547G>T p.Gly516Val missense_variant 10/12 -
NR_110451.1 n.1154G>T - non_coding_transcript_exon_variant 8/10 -