B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1

Summary

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

Known Variants268 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11320785612:58,017,860G/A—conflicting classifications of pathogenicity
rs11192410412:58,018,668T/G—likely benign
rs15107742312:58,019,202C/T—conflicting classifications of pathogenicity
rs3583186812:58,020,360A/G—benign
rs14152451112:58,020,525C/T—benign
rs76498640012:58,020,531T/G—uncertain significance
rs254063897412:58,020,572C/G—likely benign
rs75159318712:58,020,573C/G—conflicting classifications of pathogenicity
rs1745467412:58,020,582A/G—benign
rs14498460812:58,020,584C/T—uncertain significance
rs77139925112:58,020,588T/C—uncertain significance
rs36893157712:58,020,596G/C—uncertain significance
rs14488766412:58,020,615C/T—pathogenic
rs188484211112:58,020,616G/A—pathogenic
rs76767893612:58,020,620C/T—likely benign
rs37341329812:58,020,626G/A—likely benign
rs188484451912:58,020,639C/G—uncertain significance
rs74590468112:58,020,641G/A—likely benign
rs126914089312:58,020,651G/C—pathogenic
rs11301527312:58,020,659A/G—likely benign
rs14561177712:58,020,674G/C—likely benign
rs74786408312:58,020,691C/A—uncertain significance
rs77289965812:58,020,692G/A—likely benign
rs99539731212:58,020,694C/T—uncertain significance
rs106050413212:58,020,695G/A—likely benign
rs76276312312:58,020,697C/T—uncertain significance
rs37577291012:58,020,698G/A—likely benign
rs75952812812:58,020,714C/G—pathogenic
rs254064063412:58,020,719G/A—likely benign
rs155518581812:58,020,729C/T—uncertain significance
rs133095346012:58,020,734C/T—likely benign
rs254064085012:58,020,739A/G—uncertain significance
rs159497660412:58,020,740G/T—uncertain significance
rs20052491212:58,020,754G/A—likely benign
rs81351612:58,020,825A/G—likely benign
rs1008315412:58,020,933G/A—benign
rs1232053712:58,021,091G/C—benign
rs55872851412:58,021,196A/T—benign
rs77573269812:58,021,387G/C—likely benign
rs126292444212:58,021,394C/T—uncertain significance
rs37621130012:58,021,398C/T—uncertain significance
rs159497815712:58,021,407G/A—uncertain significance
rs139543596212:58,021,436C/T—uncertain significance
rs75223890412:58,021,441C/T—likely benign
rs77712984312:58,021,460C/G—uncertain significance
rs56357573012:58,021,463G/T—likely pathogenic
rs254064637512:58,021,468G/T—uncertain significance
rs214024266212:58,021,470A/G—uncertain significance
rs74903249912:58,021,474G/A—likely benign
rs87925524212:58,021,487T/Gmissense variantpathogenic
rs214024276312:58,021,494C/T—uncertain significance
rs14306602512:58,021,513G/A—likely benign
rs76326729112:58,021,544C/G—uncertain significance
rs148265271812:58,021,551A/G—uncertain significance
rs214024309812:58,021,568G/T—uncertain significance
rs37449747212:58,021,573G/A—likely benign
rs75695326712:58,021,575G/A—uncertain significance
rs37704470112:58,021,581C/T—uncertain significance
rs77993734212:58,021,582G/T—uncertain significance
rs78138962312:58,021,595C/G—uncertain significance
rs136653767212:58,021,596G/A—uncertain significance
rs77004042412:58,021,607G/A—uncertain significance
rs77345083212:58,021,615G/A—likely benign
rs134613971212:58,021,623C/G—uncertain significance
rs188493816612:58,021,633G/A—likely benign
rs95294838912:58,021,638C/G—uncertain significance
rs37010723812:58,021,648G/A—conflicting classifications of pathogenicity
rs36791914112:58,021,894C/G—likely benign
rs254065168112:58,021,897T/G—likely benign
rs15117778412:58,021,913G/A—likely benign
rs75475748212:58,021,924T/G—uncertain significance
rs6164974612:58,021,929C/T—benign
rs148407553712:58,021,947C/A—likely benign
rs74935062012:58,021,953C/T—likely benign
rs14547422012:58,021,954G/C—uncertain significance
rs134437136312:58,021,960G/C—uncertain significance
rs20223163712:58,021,963G/A—uncertain significance
rs54179450212:58,021,971G/T—uncertain significance
rs254065283212:58,021,977G/T—uncertain significance
rs125367626912:58,021,979C/G—uncertain significance
rs214024452612:58,021,989C/T—likely benign
rs254065297112:58,021,991G/A—likely benign
rs254065303012:58,021,996T/G—uncertain significance
rs14464346112:58,022,000T/C—uncertain significance
rs130081573412:58,022,013A/G—likely benign
rs77289645112:58,022,014G/A—uncertain significance
rs214024466012:58,022,017A/G—uncertain significance
rs76251951712:58,022,019G/C—likely benign
rs1161606512:58,022,024A/G—benign
rs75916797012:58,022,037G/A—uncertain significance
rs14492602312:58,022,040C/G—uncertain significance
rs14152172712:58,022,062T/A—likely benign
rs1232248212:58,022,074G/A—benign
rs14619681012:58,022,082A/G—likely benign
rs37127575212:58,022,478A/G—likely benign
rs75050323312:58,022,492A/G—uncertain significance
rs147176004812:58,022,496C/A—conflicting classifications of pathogenicity
rs13872150812:58,022,501C/T—uncertain significance
rs37614041512:58,022,502G/A—likely benign
rs254065702812:58,022,507G/A—uncertain significance

Showing 100 of 268 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.