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LDLR c.1066G>C ;(p.D356H)
Variant ID: 19-11222195-G-C
NM_000527.4(
LDLR
):c.1066G>C;(p.D356H)
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: 1066G>C; Asp356His; rs767767730
PubMed Link:
35929461
Variant Present in the following documents:
JAH3-11-e025232.pdf
JAH3-11-e025232-s001.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: 1066G>C; Asp356His; rs767767730
PubMed Link:
33533259
Variant Present in the following documents:
JAH3-10-e018263.pdf
JAH3-10-e018263-s001.pdf
View BVdb publication page
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Scientific Reports
Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C
Publication Date: 2020-02-03
Variant appearance in text: LDLR: 1066G>C; Asp356His
PubMed Link:
32015373
Variant Present in the following documents:
41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page