APOC3 c.11G>A ;(p.R4Q)

Variant ID: 11-116701309-G-A

NM_000040.1(APOC3):c.11G>A;(p.R4Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia.

Frontiers In Genetics
Iannuzzi, Arcangelo A; Annunziata, Mario M; Fortunato, Giuliana G; Giacobbe, Carola C; Palma, Daniela D; Bresciani, Alessandro A; Aliberti, Emilio E; Iannuzzo, Gabriella G
Publication Date: 2022

Variant appearance in text: APOC3: 11G>A; rs779597455
PubMed Link: 35237305
Variant Present in the following documents:
  • Main text
  • fgene-13-832890.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOC3: 11G>A
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: APOC3: 11G>A; Arg4Gln; rs779597455
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 5
View BVdb publication page