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LDLR c.1706-69G>A
Variant ID: 19-11227466-G-A
NM_000527.4(
LDLR
):c.1706-69G>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:
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22
Variant appearance in text: rs7259278
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs7259278
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).
Meta Gene
Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M
Publication Date: 2014-12
Variant appearance in text: rs7259278
PubMed Link:
25606447
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Bmc Medical Genetics
Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA
Publication Date: 2011-03-19
Variant appearance in text: rs7259278
PubMed Link:
21418584
Variant Present in the following documents:
Main text
1471-2350-12-40.pdf
View BVdb publication page