SLC29A3

solute carrier family 29 member 3

Summary

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

Known Variants423 total

rsidPosition (GRCh37)AllelesClassClinVar
rs792411510:73,078,862C/G—benign
rs7254248110:73,079,004C/T—benign
rs88604711610:73,079,036G/C—uncertain significance
rs77147994410:73,079,044C/T—uncertain significance
rs53846387410:73,079,060C/T—benign
rs184579037310:73,079,069T/G—likely pathogenic
rs129216592810:73,079,075C/T—likely benign
rs124931763910:73,079,081G/C—likely benign
rs1752518810:73,079,147G/A—benign
rs4130055410:73,079,229T/C—benign
rs706793710:73,079,302C/G—benign
rs8022374810:73,082,496C/T—benign
rs213179640810:73,082,501T/C—likely benign
rs184587667710:73,082,507C/T—likely benign
rs184587680610:73,082,509A/G—likely pathogenic
rs184587686810:73,082,516C/T—uncertain significance
rs14477081210:73,082,517C/T—likely benign
rs77484388010:73,082,518G/A—uncertain significance
rs20212888210:73,082,521G/A—uncertain significance
rs75824872510:73,082,529G/A—likely benign
rs74629891710:73,082,532C/A—uncertain significance
rs55854784610:73,082,533G/A—uncertain significance
rs213179648610:73,082,542C/G—uncertain significance
rs54146109410:73,082,551A/G—uncertain significance
rs227725710:73,082,563A/G—likely benign
rs249235571110:73,082,568C/G—likely benign
rs75413898310:73,082,570C/G—uncertain significance
rs14642389110:73,082,579G/A—uncertain significance
rs74640835010:73,082,584C/Tstop gainedpathogenic
rs13897678610:73,082,585G/A—likely benign
rs100240036910:73,082,591A/T—uncertain significance
rs56435077510:73,082,600C/T—uncertain significance
rs53148284410:73,082,615T/G—uncertain significance
rs77318303510:73,082,622C/A—uncertain significance
rs14315475410:73,082,623C/T—uncertain significance
rs20123860010:73,082,624G/A—likely benign
rs36893929710:73,082,627C/T—uncertain significance
rs36934433710:73,082,628G/A—likely benign
rs75281885310:73,082,631C/T—likely benign
rs14676490510:73,082,639T/G—conflicting classifications of pathogenicity
rs146822260110:73,082,646G/T—uncertain significance
rs37441769510:73,082,649C/T—conflicting classifications of pathogenicity
rs37776261110:73,082,650G/T—pathogenic
rs184588363810:73,082,655C/T—likely benign
rs19961981710:73,082,656C/T—uncertain significance
rs20161081910:73,082,657G/C—uncertain significance
rs76962122810:73,082,659T/C—uncertain significance
rs15035442410:73,082,670A/G—likely benign
rs77417324210:73,082,674A/C—uncertain significance
rs184588479310:73,082,676C/T—likely benign
rs76076343210:73,082,688C/T—likely benign
rs213179688510:73,082,693G/A—uncertain significance
rs76199854510:73,082,696T/C—uncertain significance
rs249235675410:73,082,703T/C—likely benign
rs37711915810:73,082,704C/T—likely benign
rs249235681610:73,082,709G/T—likely benign
rs14221690510:73,082,710C/T—uncertain significance
rs75869079010:73,082,712A/G—likely benign
rs249235691710:73,082,725A/T—uncertain significance
rs75202762810:73,082,730T/C—conflicting classifications of pathogenicity
rs54301626110:73,082,736G/C—uncertain significance
rs116215068110:73,082,741A/G—uncertain significance
rs78082904510:73,082,742C/T—likely benign
rs147044803210:73,082,753A/G—uncertain significance
rs77311842710:73,082,758C/T—uncertain significance
rs37056664410:73,082,759G/A—uncertain significance
rs74905726710:73,082,763C/G—uncertain significance
rs77065837110:73,082,768C/T—uncertain significance
rs249235727210:73,082,771G/A—uncertain significance
rs13838947110:73,082,780C/T—uncertain significance
rs74576378110:73,082,781C/T—likely benign
rs77209372810:73,082,782G/A—uncertain significance
rs156452526510:73,082,784G/C—likely benign
rs76194358510:73,082,792C/G—uncertain significance
rs105528574010:73,082,801C/T—uncertain significance
rs213179712710:73,082,803G/A—uncertain significance
rs130768618810:73,082,808C/G—uncertain significance
rs58778046310:73,082,812G/C—pathogenic
rs213179715610:73,082,813T/C—pathogenic
rs708303110:73,082,814A/G—benign
rs184589049610:73,082,816G/A—uncertain significance
rs76820691910:73,082,818G/A—likely benign
rs75218865310:73,082,822G/A—likely benign
rs137478078810:73,082,825T/A—likely benign
rs708672410:73,083,045A/G—benign
rs1225613810:73,096,236C/G——
rs4128130010:73,103,904C/G—benign
rs55244137910:73,103,950A/C—likely benign
rs184649629010:73,103,951C/T—likely benign
rs213182756010:73,103,955T/G—likely benign
rs184649649110:73,103,956G/A—likely benign
rs57110265710:73,103,960T/C—likely benign
rs7733941010:73,103,969T/C—likely benign
rs249243522510:73,103,976A/C—uncertain significance
rs213182763010:73,103,978A/C—uncertain significance
rs104692997410:73,103,984C/T—uncertain significance
rs75344022510:73,103,989C/T—likely benign
rs13864061510:73,103,990G/A—conflicting classifications of pathogenicity
rs102125031210:73,103,995C/T—likely benign
rs37421239110:73,103,999A/G—benign

Showing 100 of 423 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.