APOB c.7134C>A ;(p.S2378R)

Variant ID: 2-21232606-G-T

NM_000384.2(APOB):c.7134C>A;(p.S2378R)

This variant was identified in 3 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: S2378R; rs793888518
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
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: rs793888518
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
Brænne, Ingrid I; Kleinecke, Mariana M; Reiz, Benedikt B; Graf, Elisabeth E; Strom, Tim T; Wieland, Thomas T; Fischer, Marcus M; Kessler, Thorsten T; Hengstenberg, Christian C; Meitinger, Thomas T; Erdmann, Jeanette J; Schunkert, Heribert H
Publication Date: 2016-02

Variant appearance in text: APOB: 7134C>A; S2378R
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page