APOB c.11257T>C ;(p.F3753L)

Variant ID: 2-21228483-A-G

NM_000384.2(APOB):c.11257T>C;(p.F3753L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: APOB: F3753L; rs61741974
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: APOB: F3753L; rs61741974
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
View BVdb publication page



High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.

American Journal Of Medical Genetics. Part A
Munabi, Naikhoba C O NCO; Mikhail, Shady S; Toubat, Omar O; Webb, Michelle M; Auslander, Allyn A; Sanchez-Lara, Pedro A PA; Manojlovic, Zarko Z; Schmidt, Ryan J RJ; Craig, David D; Magee, William P WP; Kumar, Subramanyan Ram SR
Publication Date: 2022-07

Variant appearance in text: APOB: 11257T>C; F3753L; rs61741974
PubMed Link: 35385219
Variant Present in the following documents:
  • Main text
  • AJMG-188-2082.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: APOB: 11257T>C; Phe3753Leu
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
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: rs61741974
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Vision Research
Ung, Cindy C; Sanchez, Angie V AV; Shen, Lishuang L; Davoudi, Samaneh S; Ahmadi, Tina T; Navarro-Gomez, Daniel D; Chen, Ching J CJ; Hancock, Heather H; Penman, Alan A; Hoadley, Suzanne S; Consugar, Mark M; Restrepo, Carlos C; Shah, Vinay A VA; Arboleda-Velasquez, Joseph F JF; Sobrin, Lucia L; Gai, Xiaowu X; Kim, Leo A LA
Publication Date: 2017-10

Variant appearance in text: APOB: F3753L; rs61741974
PubMed Link: 28431867
Variant Present in the following documents:
  • Main text
View BVdb publication page