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LDLR c.940+775G>A
Variant ID: 19-11218965-G-A
NM_000527.4(
LDLR
):c.940+775G>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:
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Genes
Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R
Publication Date: 2023-03-15
Variant appearance in text: rs2569556
PubMed Link:
36980993
Variant Present in the following documents:
Main text
genes-14-00721.pdf
View BVdb publication page
Molecular diagnosis methods in familial hypercholesterolemia.
Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02
Variant appearance in text: rs2569556
PubMed Link:
32120369
Variant Present in the following documents:
Main text
AJC-23-120.pdf
View BVdb publication page
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs2569556
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.
Plos One
Lye, Say-Hean SH; Chahil, Jagdish Kaur JK; Bagali, Pramod P; Alex, Livy L; Vadivelu, Jamunarani J; Ahmad, Wan Azman Wan WA; Chan, Siew-Pheng SP; Thong, Meow-Keong MK; Zain, Shamsul Mohd SM; Mohamed, Rosmawati R
Publication Date: 2013
Variant appearance in text: rs2569556
PubMed Link:
23593297
Variant Present in the following documents:
Main text
pone.0060729.pdf
View BVdb publication page