CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

Summary

This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]

Known Variants270 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38023308:19,263,003G/A—benign
rs1499736388:19,263,283A/C—likely benign
rs7524280878:19,263,316T/A—uncertain significance
rs619107418:19,263,328C/G—likely benign
rs3720148448:19,263,332G/T—uncertain significance
rs1486254528:19,263,339C/G—uncertain significance
rs9869040548:19,263,342T/C—uncertain significance
rs3769926668:19,263,343A/G—uncertain significance
rs5332355398:19,263,364A/C—uncertain significance
rs1421121038:19,263,372C/A—uncertain significance
rs7638486338:19,263,377C/T—uncertain significance
rs5727920178:19,263,378G/A—likely benign
rs9303377758:19,263,379T/C—uncertain significance
rs1888752598:19,263,390G/A—likely benign
rs5638576018:19,263,417C/G—uncertain significance
rs14755611088:19,263,425G/T—uncertain significance
rs1466770468:19,263,428C/T—uncertain significance
rs5539145828:19,263,429G/A—likely benign
rs21536576418:19,263,431G/C—uncertain significance
rs359717008:19,263,441A/G—benign
rs1466270408:19,263,442T/C—uncertain significance
rs743361858:19,263,445A/T—uncertain significance
rs1442953368:19,263,451C/T—conflicting classifications of pathogenicity
rs21536577588:19,263,463C/T—uncertain significance
rs21536577748:19,263,470G/A—uncertain significance
rs2018896508:19,263,471G/C—uncertain significance
rs171283668:19,263,472A/T—likely benign
rs25373396138:19,263,473A/G—uncertain significance
rs1816231798:19,263,477T/C—benign
rs2009633668:19,263,485C/T—uncertain significance
rs7567001048:19,263,488G/C—uncertain significance
rs3694280878:19,263,490G/A—uncertain significance
rs1999896628:19,263,493C/T—uncertain significance
rs7796064278:19,263,495T/C—likely benign
rs7629250668:19,263,520T/C—uncertain significance
rs3695859578:19,263,524T/C—uncertain significance
rs1489678588:19,263,526C/G—uncertain significance
rs7531452128:19,263,529T/A—uncertain significance
rs13872834238:19,263,536G/A—uncertain significance
rs25373463018:19,263,539C/T—uncertain significance
rs7794351058:19,263,548C/T—uncertain significance
rs3727060578:19,263,549G/T—likely benign
rs9486012238:19,263,556C/G—uncertain significance
rs7707462348:19,263,561G/A—likely benign
rs7477670548:19,263,566C/G—uncertain significance
rs25373482648:19,263,570A/C—uncertain significance
rs12736710608:19,263,576C/G—likely benign
rs7492463158:19,263,585C/T—likely benign
rs3769796798:19,263,586G/A—likely benign
rs21536581768:19,263,597C/G—likely benign
rs21536651358:19,266,105A/C—likely benign
rs3753088028:19,266,109G/A—benign
rs3695377118:19,266,118T/G—uncertain significance
rs10333414198:19,266,127T/C—uncertain significance
rs20548689088:19,266,139C/A—likely pathogenic
rs7768847598:19,266,144C/G—uncertain significance
rs1383304888:19,266,188A/G—likely benign
rs7788399598:19,266,192T/A—uncertain significance
rs12247899308:19,266,214A/G—likely benign
rs46426668:19,266,438A/G—benign
rs3708847448:19,276,151C/A—likely benign
rs5366321678:19,276,158A/C—benign
rs21536927558:19,276,167C/T—uncertain significance
rs7735794648:19,276,170C/T—likely benign
rs9134390488:19,276,174T/C—uncertain significance
rs1505413068:19,276,188G/C—likely benign
rs7637291828:19,276,193C/A—uncertain significance
rs2020925338:19,276,195T/C—uncertain significance
rs14629464218:19,276,199G/T—uncertain significance
rs1470158868:19,276,203G/T—likely benign
rs7548637168:19,276,206G/A—likely benign
rs7563518558:19,276,220G/A—uncertain significance
rs25379893998:19,276,227C/G—uncertain significance
rs3720539108:19,276,231C/A—uncertain significance
rs21536929258:19,276,232T/C—uncertain significance
rs7463916518:19,276,243G/C—conflicting classifications of pathogenicity
rs21536930138:19,276,260C/T—likely benign
rs20573683878:19,276,270C/T—uncertain significance
rs13159635928:19,276,275A/G—likely benign
rs69912128:19,276,522C/T—benign
rs69912318:19,276,556C/G—benign
rs70165928:19,277,735A/G—benign
rs69997868:19,277,817G/A—benign
rs7742154248:19,277,846C/T—uncertain significance
rs25380832358:19,277,855C/T—likely benign
rs344922158:19,277,874G/A—uncertain significance
rs7456469458:19,277,877T/C—uncertain significance
rs20577226688:19,277,893T/C—uncertain significance
rs25380879758:19,277,902T/C—uncertain significance
rs12975957448:19,277,910T/A—uncertain significance
rs13827572978:19,277,921G/T—likely benign
rs9992255188:19,277,929C/T—uncertain significance
rs342851708:19,277,930G/A—benign
rs1462056468:19,277,985T/C—uncertain significance
rs20577458788:19,277,997T/C—uncertain significance
rs25380979358:19,278,002G/A—likely benign
rs5354414838:19,278,011G/C—uncertain significance
rs360267218:19,278,027G/A—conflicting classifications of pathogenicity
rs7817486818:19,278,037G/A—likely benign
rs3688551508:19,278,043C/T—likely benign

Showing 100 of 270 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.