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LDLR c.389dup ;(p.D131Rfs*49)
Variant ID: 19-11215970-T-TC
NM_000527.4(
LDLR
):c.389dup;(p.D131Rfs*49)
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: 389dup; Asp131Argfs*49; rs879254510
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: 389dupC
PubMed Link:
35480308
Variant Present in the following documents:
Presentation1.pdf
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: LDLR: 389dup; Asp131Argfs*49; rs879254510
PubMed Link:
33533259
Variant Present in the following documents:
JAH3-10-e018263-s001.pdf
JAH3-10-e018263.pdf
View BVdb publication page