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APOB c.6284T>A ;(p.V2095E)
Variant ID: 2-21233456-A-T
NM_000384.2(
APOB
):c.6284T>A;(p.V2095E)
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:
Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.
Medicine
Batais, Mohammed Ali MA; Almigbal, Turky H TH; Shaik, Noor Ahmad NA; Alharbi, Fawaziah Khalaf FK; Alharbi, Khalid Khalaf KK; Ali Khan, Imran I
Publication Date: 2019-01
Variant appearance in text: APOB: Val2095Glu
PubMed Link:
30681615
Variant Present in the following documents:
Main text
medi-98-e14247.pdf
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: APOB: Val2095Glu
PubMed Link:
26415676
Variant Present in the following documents:
Main text
12881_2015_Article_230.pdf
View BVdb publication page