APOB c.12739C>T ;(p.Q4247*)

Variant ID: 2-21225555-G-A

NM_000384.2(APOB):c.12739C>T;(p.Q4247*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: APOB: 12739C>T; Gln4247Ter; rs907126709
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page



Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.

Circulation. Genomic And Precision Medicine
Peloso, Gina M GM; Nomura, Akihiro A; Khera, Amit V AV; Chaffin, Mark M; Won, Hong-Hee HH; Ardissino, Diego D; Danesh, John J; Schunkert, Heribert H; Wilson, James G JG; Samani, Nilesh N; Erdmann, Jeanette J; McPherson, Ruth R; Watkins, Hugh H; Saleheen, Danish D; McCarthy, Shane S; Teslovich, Tanya M TM; Leader, Joseph B JB; Lester Kirchner, H H; Marrugat, Jaume J; Nohara, Atsushi A; Kawashiri, Masa-Aki MA; Tada, Hayato H; Dewey, Frederick E FE; Carey, David J DJ; Baras, Aris A; Kathiresan, Sekar S
Publication Date: 2019-05

Variant appearance in text: APOB: Gln4247Ter
PubMed Link: 30939045
Variant Present in the following documents:
  • hcg-12-e002376-s001.pdf
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: APOB: 12739C>T; Q4247X
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-3.xlsx, sheet 1
View BVdb publication page



Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Human Molecular Genetics
Freudenberg-Hua, Yun Y; Li, Wentian W; Abhyankar, Avinash A; Vacic, Vladimir V; Cortes, Vanessa V; Ben-Avraham, Danny D; Koppel, Jeremy J; Greenwald, Blaine B; Germer, Soren S; , ; Darnell, Robert B RB; Barzilai, Nir N; Freudenberg, Jan J; Atzmon, Gil G; Davies, Peter P
Publication Date: 2016-07-15

Variant appearance in text: APOB: Gln4247*
PubMed Link: 27260402
Variant Present in the following documents:
  • Main text
View BVdb publication page