LDLR c.1706A>G ;(p.D569G)

Variant ID: 19-11227535-A-G

NM_000527.4(LDLR):c.1706A>G;(p.D569G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association
Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M
Publication Date: 2022-08-16

Variant appearance in text: LDLR: 1706A>G; Asp569Gly
PubMed Link: 35929461
Variant Present in the following documents:
  • JAH3-11-e025232-s001.pdf
  • JAH3-11-e025232.pdf
View BVdb publication page



Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics
Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2022

Variant appearance in text: LDLR: 1706A>G; Asp569Gly
PubMed Link: 35480308
Variant Present in the following documents:
  • Presentation1.pdf
View BVdb publication page



Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Keiji K; Mizobuchi, Asako A; Ying Fu, Hai H; Ishikawa, Shohei S; Tada, Hayato H; Kawashiri, Masa-Aki MA; Yokota, Ichiro I; Sasaki, Tsuyoshi T; Ito, Shigeru S; Kunikata, Jun J; Iwase, Takashi T; Hirao, Tomohiro T; Yokoyama, Katsunori K; Hoshikawa, Yoichi Y; Fujisawa, Takuji T; Dobashi, Kazushige K; Kusaka, Takashi T; Minamino, Tetsuo T
Publication Date: 2022-06-01

Variant appearance in text: LDLR: Asp569Gly
PubMed Link: 34176852
Variant Present in the following documents:
  • jat-29-839.pdf
View BVdb publication page