APOB c.10186G>A ;(p.A3396T)

Variant ID: 2-21229554-C-T

NM_000384.2(APOB):c.10186G>A;(p.A3396T)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: APOB: 10186G>A; Ala3396Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: APOB: Ala3396Thr
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: APOB: A3396T
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M
Publication Date: 2018-01-31

Variant appearance in text: APOB: Ala3396Thr
PubMed Link: 29386597
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_20281.pdf
View BVdb publication page



Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg
Ghaleb, Youmna Y; Elbitar, Sandy S; El Khoury, Petra P; Bruckert, Eric E; Carreau, Valérie V; Carrié, Alain A; Moulin, Philippe P; Di-Filippo, Mathilde M; Charriere, Sybil S; Iliozer, Harout H; Farnier, Michel M; Luc, Gérald G; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M
Publication Date: 2018-04

Variant appearance in text: APOB: 10186G>A; Ala3396Thr
PubMed Link: 29374275
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: APOB: A3396T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
Stitziel, Nathan O NO; Peloso, Gina M GM; Abifadel, Marianne M; Cefalu, Angelo B AB; Fouchier, Sigrid S; Motazacker, M Mahdi MM; Tada, Hayato H; Larach, Daniel B DB; Awan, Zuhier Z; Haller, Jorge F JF; Pullinger, Clive R CR; Varret, Mathilde M; Rabès, Jean-Pierre JP; Noto, Davide D; Tarugi, Patrizia P; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Yamagishi, Masakazu M; Risman, Marjorie M; Deo, Rahul R; Ruel, Isabelle I; Shendure, Jay J; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Gupta, Namrata N; Farlow, Deborah N DN; Neale, Benjamin M BM; Daly, Mark J MJ; Kane, John P JP; Freeman, Mason W MW; Genest, Jacques J; Rader, Daniel J DJ; Mabuchi, Hiroshi H; Kastelein, John J P JJ; Hovingh, G Kees GK; Averna, Maurizio R MR; Gabriel, Stacey S; Boileau, Catherine C; Kathiresan, Sekar S
Publication Date: 2015-04

Variant appearance in text: APOB: A3396T
PubMed Link: 25632026
Variant Present in the following documents:
  • Main text
View BVdb publication page