APOA4

apolipoprotein A4

Summary

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]

Known Variants116 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53403950011:116,691,054C/T
rs135201155011:116,691,596G/Auncertain significance
rs128884529611:116,691,609G/Auncertain significance
rs14087827411:116,691,621G/Tlikely benign
rs213421744411:116,691,629T/Cuncertain significance
rs511011:116,691,634C/Amissense variantpathogenic
rs254026650211:116,691,654C/Tuncertain significance
rs77723158811:116,691,670G/Alikely benign
rs67511:116,691,675T/Clikely benign
rs254026662211:116,691,695T/Guncertain significance
rs14635348711:116,691,717A/Clikely benign
rs14757745111:116,691,720T/Auncertain significance
rs510911:116,691,766C/Abenign
rs14576135411:116,691,768C/Tconflicting classifications of pathogenicity
rs54503438211:116,691,769G/Alikely benign
rs11326329211:116,691,776G/Auncertain significance
rs127629589211:116,691,786C/Auncertain significance
rs76978886011:116,691,805T/Clikely benign
rs37775218611:116,691,843C/Guncertain significance
rs37392002611:116,691,844G/Alikely benign
rs510811:116,691,855C/Guncertain significance
rs20102143511:116,691,858G/Auncertain significance
rs15026448711:116,691,861G/Tuncertain significance
rs15062457411:116,691,863C/Tuncertain significance
rs78174796311:116,691,864G/Auncertain significance
rs194131565211:116,691,873C/Guncertain significance
rs510711:116,691,886C/Tbenign
rs20214741511:116,691,926T/Guncertain significance
rs510611:116,691,928G/Abenign
rs123037246311:116,691,939T/Glikely benign
rs194131669511:116,691,947C/Tuncertain significance
rs75128305211:116,691,951G/Auncertain significance
rs18408328511:116,691,954C/Tconflicting classifications of pathogenicity
rs14636584011:116,691,955G/Abenign
rs136691224111:116,691,960C/Tuncertain significance
rs104288565211:116,691,961G/Alikely benign
rs56784453311:116,691,971G/Auncertain significance
rs223800811:116,691,983C/Tuncertain significance
rs74798988611:116,691,984G/Auncertain significance
rs510511:116,691,994G/Abenign
rs100703634711:116,691,997A/Cuncertain significance
rs57635574811:116,692,005A/Cuncertain significance
rs12190957611:116,692,026C/Tmissense variantbenign
rs14872451311:116,692,070T/Cuncertain significance
rs129722212411:116,692,112C/Tuncertain significance
rs78018968411:116,692,113G/Auncertain significance
rs75178716711:116,692,119G/Tuncertain significance
rs98363244911:116,692,128C/Tuncertain significance
rs14518460711:116,692,155C/Tuncertain significance
rs14056646811:116,692,175C/Tuncertain significance
rs14205073411:116,692,176G/Auncertain significance
rs14552585611:116,692,204G/Tlikely benign
rs20186113611:116,692,221C/Tbenign
rs14881529711:116,692,224C/Tuncertain significance
rs37772927411:116,692,240C/Tlikely benign
rs118185269611:116,692,241G/Auncertain significance
rs75104095011:116,692,254T/Cuncertain significance
rs14836489711:116,692,260C/Tuncertain significance
rs194132323611:116,692,262T/Cuncertain significance
rs20082405111:116,692,266C/Tlikely benign
rs14229595411:116,692,269G/Auncertain significance
rs120508109211:116,692,276T/Auncertain significance
rs37117329811:116,692,291T/Clikely benign
rs77300205811:116,692,292G/Auncertain significance
rs1272104311:116,692,293C/Tuncertain significance
rs53895434511:116,692,294G/Alikely benign
rs76701222311:116,692,295T/Cuncertain significance
rs75570966211:116,692,299G/Auncertain significance
rs74634405811:116,692,313C/Aconflicting classifications of pathogenicity
rs15063365111:116,692,314G/Auncertain significance
rs76885541911:116,692,323C/Tuncertain significance
rs223466811:116,692,324G/Abenign
rs510411:116,692,334C/Tmissense variantbenign
rs75697154311:116,692,347G/Auncertain significance
rs132028377611:116,692,359C/Tuncertain significance
rs74831620911:116,692,370A/Guncertain significance
rs20209653711:116,692,373C/Tlikely benign
rs77407775011:116,692,374G/Tuncertain significance
rs14761019111:116,692,393G/Tlikely benign
rs54607564211:116,692,401C/Tuncertain significance
rs144673356411:116,692,411G/Cuncertain significance
rs75074918011:116,692,421T/Guncertain significance
rs75557777311:116,692,440G/Auncertain significance
rs641345611:116,692,449G/Abenign
rs77530023111:116,692,481A/Cuncertain significance
rs135025205011:116,692,482G/Alikely benign
rs14217650311:116,692,490G/Auncertain significance
rs56141690711:116,692,505C/Tuncertain significance
rs194132949711:116,692,517T/Cuncertain significance
rs76355208511:116,692,519G/Alikely benign
rs56961642811:116,692,520G/Auncertain significance
rs510311:116,692,552G/Abenign
rs510111:116,692,558G/Abenign
rs1330617311:116,692,595G/Tuncertain significance
rs510011:116,692,694G/Abenign
rs509811:116,692,813G/Cbenign
rs509511:116,693,163G/Abenign
rs509411:116,693,213G/Abenign
rs223901311:116,693,353C/Tbenign
rs509311:116,693,354G/Abenign

Showing 100 of 116 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.