APOA1 c.718C>T ;(p.Q240*)

Variant ID: 11-116706610-G-A

NM_000039.1(APOA1):c.718C>T;(p.Q240*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: APOA1: 718C>T; Gln240Ter
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: APOA1: 718C>T; Q240*
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Journal Of Lipid Research
Dron, Jacqueline S JS; Wang, Jian J; Low-Kam, Cécile C; Khetarpal, Sumeet A SA; Robinson, John F JF; McIntyre, Adam D AD; Ban, Matthew R MR; Cao, Henian H; Rhainds, David D; Dubé, Marie-Pierre MP; Rader, Daniel J DJ; Lettre, Guillaume G; Tardif, Jean-Claude JC; Hegele, Robert A RA
Publication Date: 2017-11

Variant appearance in text: APOA1: 718C>T; Q240X
PubMed Link: 28870971
Variant Present in the following documents:
  • 10.1194_M079822_jlr.M079822-1.pdf
View BVdb publication page