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.




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