Variant ID: 1-55505520-G-A

NM_174936.3(PCSK9):c.10G>A;(p.Val4Ile)

This variant was identified in 4 publications




Publications:


Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.

Bmj Open
A Nomura, H Tada, H Okada, A Nohara, H Ishikawa, K Yoshimura, MA Kawashiri
Publication Date: 2018-12-28

Variant appearance in text: PCSK9: Val4Ile
PMID: 30593551
View BVdb publication page



Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal Medicine (Tokyo, Japan)
R Shirahama, T Ono, S Nagamatsu, D Sueta, S Takashio, T Chitose, K Fujisue, K Sakamoto, E Yamamoto, Y Izumiya, K Kaikita, S Hokimoto, M Hori, M Harada-Shiba, I Kajiwara, H Ogawa, K Tsujita
Publication Date: 2018

Variant appearance in text: PCSK9: 10G>A
PMID: 30555118
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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2017

Variant appearance in text: PCSK9: V4I; rs186669805
PMID: 29036232
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.10G>A p.Val4Ile missense_variant 1/12 -
ENST00000452118.2 c.10G>A p.Val4Ile missense_variant 1/6 -
NM_174936.4 c.10G>A p.Val4Ile missense_variant 1/12 -