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LDLR c.2312-3C>A
Variant ID: 19-11238681-C-A
NM_000527.4(
LDLR
):c.2312-3C>A
This variant was identified in 4 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: 2312-3C>A; rs875989942
PubMed Link:
35929461
Variant Present in the following documents:
JAH3-11-e025232.pdf
JAH3-11-e025232-s001.pdf
View BVdb publication page
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Clinical Genetics
Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G
Publication Date: 2021-11
Variant appearance in text: LDLR: 2312-3C>A; rs875989942
PubMed Link:
34297352
Variant Present in the following documents:
Main text
CGE-100-529.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: 2312-3C>A; rs875989942
PubMed Link:
33533259
Variant Present in the following documents:
JAH3-10-e018263.pdf
JAH3-10-e018263-s001.pdf
View BVdb publication page
Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.
Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10
Variant appearance in text: rs875989942
PubMed Link:
33079599
Variant Present in the following documents:
hcg-13-515-s001.pdf
View BVdb publication page