Variant ID: 1-55505520-G-A

NM_174936.3(PCSK9):c.10G>A;(p.V4I)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Multi-site desmoplastic small round cell tumors are genetically related and immune-cold.

Npj Precision Oncology
Wu, Chia-Chin CC; Beird, Hannah C HC; Lamhamedi-Cherradi, Salah-Eddine SE; Soeung, Melinda M; Ingram, Davis D; Truong, Danh D DD; Porter, Robert W RW; Krishnan, Sandhya S; Little, Latasha L; Gumbs, Curtis C; Zhang, Jianhua J; Titus, Mark M; Genovese, Giannicola G; Ludwig, Joseph A JA; Lazar, Alexander J AJ; Hayes-Jordan, Andrea A; Futreal, P Andrew PA
Publication Date: 2022-04-04

Variant appearance in text: PCSK9: V4I; rs186669805
PubMed Link: 35379887
Variant Present in the following documents:
  • 41698_2022_257_MOESM2_ESM.xlsx
View BVdb publication page



LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal Of Clinical Laboratory Analysis
Hamasaki, Masato M; Sakane, Naoki N; Hara, Kazuo K; Kotani, Kazuhiko K
Publication Date: 2021-11

Variant appearance in text: PCSK9: V4I
PubMed Link: 34652028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: PCSK9: 10G>A; rs186669805
PubMed Link: 33533259
Variant Present in the following documents:
  • Main text
  • JAH3-10-e018263.pdf
  • JAH3-10-e018263-s001.pdf
View BVdb publication page



Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.

Bmj Open
Tada, Hayato H; Okada, Hirofumi H; Yoshida, Shohei S; Shimojima, Masaya M; Nomura, Akihiro A; Tsuda, Toyonobu T; Mori, Mika M; Takashima, Shin-Ichiro SI; Kato, Takeshi T; Usui, Soichiro S; Sakata, Kenji K; Hayashi, Kenshi K; Fujino, Noboru N; Inazu, Akihiro A; Takahara, Shizuko S; Imai, Yasuhito Y; Matsubara, Takao T; Nohara, Atsushi A; Miwa, Kenji K; Namura, Masanobu M; Terai, Hidenobu H; Yoshida, Taiji T; Araki, Tsutomu T; Minamoto, Masahiro M; Aburao, Toru T; Ito, Yuji Y; Nakanishi, Chiaki C; Kawasaki, Suguru S; Todo, Yasuhiro Y; Koizumi, Junji J; Kita, Yoshihito Y; Matsumoto, Hiroshi H; Shintaku, Hiroaki H; Hodatsu, Akihiko A; Ino, Hidekazu H; Higashikata, Toshinori T; Takata, Mutsuko M; Misawa, Katsushi K; Yamaguchi, Masato M; Noji, Yoshihiro Y; Osato, Kazuo K; Mabuchi, Tomohito T; Ichise, Taro T; Kaku, Bunji B; Katsuda, Shoji S; Fujimoto, Manabu M; Uchiyama, Katsuharu K; Fujioka, Kensuke K; Nakahashi, Takuya T; Nozue, Tsuyoshi T; Michishita, Ichiro I; Usuda, Kazuo K; Otowa, Kanichi K; Okeie, Kazuyasu K; Hirota, Satoshi S; Aburadani, Isao I; Kurokawa, Keisuke K; Takatori, Osamu O; Hondo, Shunichiro S; Oda, Hiroyuki H; Takata, Shigeo S; Murai, Hisayoshi H; Kinoshita, Masaki M; Nagai, Hideo H; Sekiguchi, Yoshiteru Y; Sakagami, Satoru S; Omi, Wataru W; Fujita, Chikara C; Katsuki, Tatsuo T; Ootsuji, Hiroshi H; Igarashi, Atsushi A; Nakano, Manabu M; Okura, Seiichiro S; Maeno, Koji K; Mitamura, Yasuhito Y; Sugimoto, Naoki N; Yamamoto, Masakazu M; Akao, Hironobu H; Kajinami, Kouji K; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2020-09-10

Variant appearance in text: PCSK9: Val4Ile
PubMed Link: 32912992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: PCSK9: 10G>A
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Nomura, Akihiro A; Tada, Hayato H; Okada, Hirofumi H; Nohara, Atsushi A; Ishikawa, Hideki H; Yoshimura, Kenichi K; Kawashiri, Masa-Aki MA
Publication Date: 2018-12-28

Variant appearance in text: PCSK9: Val4Ile
PubMed Link: 30593551
Variant Present in the following documents:
  • Main text
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)
Shirahama, Ryo R; Ono, Takamichi T; Nagamatsu, Suguru S; Sueta, Daisuke D; Takashio, Seiji S; Chitose, Tadasuke T; Fujisue, Koichiro K; Sakamoto, Kenji K; Yamamoto, Eiichiro E; Izumiya, Yasuhiro Y; Kaikita, Koichi K; Hokimoto, Seiji S; Hori, Mika M; Harada-Shiba, Mariko M; Kajiwara, Ichiro I; Ogawa, Hisao H; Tsujita, Kenichi K
Publication Date: 2018

Variant appearance in text: PCSK9: 10G>A
PubMed Link: 30555118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: PCSK9: V4I; rs186669805
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
View BVdb publication page