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LDLR c.*2016G>A
Variant ID: 19-11244008-G-A
NM_000527.4(
LDLR
):c.*2016G>A
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: rs72658879
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
Bmc Medical Genetics
Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J
Publication Date: 2015-09-28
Variant appearance in text: rs72658879
PubMed Link:
26415676
Variant Present in the following documents:
View BVdb publication page