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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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