APOB

apolipoprotein B

Summary

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]

Known Variants3,318 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs369226260	2:21,224,089	T/C	—	—
rs886055565	2:21,224,337	C/T	—	uncertain significance
rs72654430	2:21,224,373	T/C	—	conflicting classifications of pathogenicity
rs886055566	2:21,224,395	G/T	—	uncertain significance
rs12720763	2:21,224,422	C/A	—	conflicting classifications of pathogenicity
rs142151703	2:21,224,423	G/A	—	conflicting classifications of pathogenicity
rs886055567	2:21,224,431	G/A	—	uncertain significance
rs888095957	2:21,224,472	T/A	—	uncertain significance
rs886055568	2:21,224,485	C/T	—	uncertain significance
rs886055569	2:21,224,517	A/G	—	uncertain significance
rs188019153	2:21,224,571	A/G	—	conflicting classifications of pathogenicity
rs72654428	2:21,224,591	C/A	—	conflicting classifications of pathogenicity
rs1460215471	2:21,224,611	G/A	—	likely benign
rs72654427	2:21,224,614	A/G	—	conflicting classifications of pathogenicity
rs749915303	2:21,224,615	G/T	—	likely benign
rs1662980568	2:21,224,616	T/C	—	uncertain significance
rs2465347158	2:21,224,619	G/A	—	likely benign
rs1662980631	2:21,224,622	C/T	—	uncertain significance
rs146687572	2:21,224,624	C/G	—	conflicting classifications of pathogenicity
rs2103345966	2:21,224,629	A/G	—	likely benign
rs1186038519	2:21,224,631	C/A	—	uncertain significance
rs886055570	2:21,224,635	C/A	—	uncertain significance
rs758028252	2:21,224,640	T/C	—	conflicting classifications of pathogenicity
rs2103345991	2:21,224,641	G/T	—	uncertain significance
rs145832414	2:21,224,643	A/G	—	conflicting classifications of pathogenicity
rs1191443988	2:21,224,646	G/T	—	uncertain significance
rs374018447	2:21,224,647	G/T	—	uncertain significance
rs1160435341	2:21,224,652	T/C	—	uncertain significance
rs777726812	2:21,224,656	T/G	—	likely benign
rs1264111478	2:21,224,662	T/C	—	likely benign
rs2465347257	2:21,224,667	G/A	—	uncertain significance
rs2465347266	2:21,224,671	C/G	—	uncertain significance
rs779964877	2:21,224,673	T/G	—	uncertain significance
rs747300780	2:21,224,678	A/G	—	uncertain significance
rs1219325740	2:21,224,679	G/T	—	uncertain significance
rs1553382221	2:21,224,681	A/C	—	uncertain significance
rs377641527	2:21,224,686	C/A	—	likely benign
rs748727595	2:21,224,687	G/A	—	conflicting classifications of pathogenicity
rs886055571	2:21,224,693	T/C	—	uncertain significance
rs1350773223	2:21,224,694	A/T	—	uncertain significance
rs756692121	2:21,224,700	G/A	—	likely benign
rs1208833496	2:21,224,704	T/C	—	likely benign
rs778140846	2:21,224,705	G/A	—	uncertain significance
rs958014928	2:21,224,708	T/C	—	conflicting classifications of pathogenicity
rs748453503	2:21,224,711	T/C	—	uncertain significance
rs773822083	2:21,224,714	T/A	—	uncertain significance
rs763341676	2:21,224,718	G/A	—	uncertain significance
rs1396812245	2:21,224,721	T/A	—	uncertain significance
rs773841094	2:21,224,727	G/A	—	likely benign
rs371437581	2:21,224,728	G/A	—	conflicting classifications of pathogenicity
rs767091894	2:21,224,730	C/T	—	uncertain significance
rs2465347458	2:21,224,735	A/G	—	uncertain significance
rs1021009945	2:21,224,736	A/G	—	likely benign
rs546806987	2:21,224,739	T/C	—	uncertain significance
rs763773989	2:21,224,744	G/A	—	likely benign
rs1231966626	2:21,224,756	A/C	—	uncertain significance
rs753852142	2:21,224,764	A/G	—	uncertain significance
rs1361236909	2:21,224,771	T/C	—	likely benign
rs2465347537	2:21,224,776	G/T	—	likely benign
rs1662985581	2:21,224,779	T/C	—	likely benign
rs141477444	2:21,224,794	T/C	—	likely benign
rs1283071180	2:21,224,797	C/A	—	likely benign
rs2465347583	2:21,224,803	A/G	—	likely benign
rs751629013	2:21,224,805	A/G	—	conflicting classifications of pathogenicity
rs755251454	2:21,224,806	T/C	—	likely benign
rs781520074	2:21,224,808	T/C	—	likely benign
rs771143412	2:21,224,818	G/A	—	likely benign
rs1463876614	2:21,224,827	A/C	—	likely benign
rs374389311	2:21,224,831	A/G	—	conflicting classifications of pathogenicity
rs771286073	2:21,224,840	T/G	—	uncertain significance
rs200374122	2:21,224,842	C/T	—	likely benign
rs12713450	2:21,224,843	G/A	—	conflicting classifications of pathogenicity
rs138421941	2:21,224,845	C/T	—	likely benign
rs147416761	2:21,224,846	G/A	—	conflicting classifications of pathogenicity
rs764014607	2:21,224,847	C/A	—	likely benign
rs370286693	2:21,224,848	A/C	—	uncertain significance
rs776276258	2:21,224,849	A/G	—	likely benign
rs142702699	2:21,224,850	T/C	—	conflicting classifications of pathogenicity
rs2465347718	2:21,224,851	G/T	—	likely benign
rs1801695	2:21,224,853	T/C	—	conflicting classifications of pathogenicity
rs755057102	2:21,224,854	C/T	—	likely benign
rs146661220	2:21,224,872	C/G	—	conflicting classifications of pathogenicity
rs756281873	2:21,224,874	G/T	—	uncertain significance
rs201587166	2:21,224,878	A/G	—	likely benign
rs2465347783	2:21,224,880	T/C	—	uncertain significance
rs1407600482	2:21,224,895	C/T	—	uncertain significance
rs746353350	2:21,224,917	A/G	—	likely benign
rs183812948	2:21,224,925	C/T	—	conflicting classifications of pathogenicity
rs1553382258	2:21,224,926	G/T	—	likely benign
rs1240567438	2:21,224,939	A/G	—	uncertain significance
rs2465348006	2:21,224,947	C/T	—	likely benign
rs776485634	2:21,224,951	A/T	—	benign
rs769871675	2:21,224,957	C/G	—	uncertain significance
rs762982664	2:21,224,960	T/G	—	conflicting classifications of pathogenicity
rs1662995512	2:21,224,962	C/G	—	likely benign
rs953483853	2:21,224,975	A/G	—	conflicting classifications of pathogenicity
rs1260467447	2:21,224,989	T/C	—	likely benign
rs144040999	2:21,224,992	G/A	—	conflicting classifications of pathogenicity
rs2465348146	2:21,224,995	A/C	—	likely benign
rs2465348156	2:21,225,001	G/T	—	uncertain significance

Showing 100 of 3,318 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.