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LDLR c.2390-136G>A
Variant ID: 19-11240053-G-A
NM_000527.4(
LDLR
):c.2390-136G>A
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China.
Human Genomics
Wang, Jiawen J; Yang, Lin L; Duan, Shuhan S; Sun, Qiuxia Q; Li, Youjing Y; Wu, Jun J; Wu, Wenxin W; Wang, Zheng Z; Liu, Yan Y; Tang, Renkuan R; Yang, Junbao J; Liu, Chao C; Yuan, Buhong B; Wang, Daoyong D; Xu, Jianwei J; Wang, Mengge M; He, Guanglin G
Publication Date: 2023-01-31
Variant appearance in text: rs2569537
PubMed Link:
36721228
Variant Present in the following documents:
Main text
40246_2023_Article_452.pdf
View BVdb publication page
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs2569537
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: LDLR: 2390-136G>A; rs2569537
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: LDLR: 2390-136G>A; rs2569537
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.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: rs2569537
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
A Bayesian group sparse multi-task regression model for imaging genetics.
Bioinformatics (Oxford, England)
Greenlaw, Keelin K; Szefer, Elena E; Graham, Jinko J; Lesperance, Mary M; Nathoo, Farouk S FS; ,
Publication Date: 2017-08-15
Variant appearance in text: rs2569537
PubMed Link:
28419235
Variant Present in the following documents:
Main text
View BVdb publication page
Laboratory Medicine in the Clinical Decision Support for Treatment of Hypercholesterolemia: Pharmacogenetics of Statins.
Clinics In Laboratory Medicine
Ruaño, Gualberto G; Seip, Richard R; Windemuth, Andreas A; Wu, Alan H B AH; Thompson, Paul D PD
Publication Date: 2016-09
Variant appearance in text: rs2569537
PubMed Link:
27514463
Variant Present in the following documents:
Main text
View BVdb publication page