SLC25A19

solute carrier family 25 member 19

Summary

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants162 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7335638417:73,269,095A/C—benign
rs207776604817:73,269,124G/A—uncertain significance
rs19249481417:73,269,148G/A—uncertain significance
rs54363838117:73,269,231G/A—likely benign
rs100421825917:73,269,240T/C—uncertain significance
rs719817:73,269,258G/C—benign
rs6262201217:73,269,332C/T—likely benign
rs37115430517:73,269,368C/T—benign
rs78052847617:73,269,419C/G—uncertain significance
rs14341989617:73,269,436C/G—likely benign
rs78055663417:73,269,528G/A—likely benign
rs180935217:73,269,530A/G—benign
rs78071777517:73,269,536C/T—uncertain significance
rs156783148017:73,269,556C/A—uncertain significance
rs88605339117:73,269,565G/T—uncertain significance
rs11351340317:73,269,577G/A—likely benign
rs214572405217:73,269,585C/T—pathogenic
rs14580850917:73,269,589C/T—likely benign
rs76866957117:73,269,590G/A—uncertain significance
rs20107099117:73,269,605C/A—uncertain significance
rs131393741217:73,269,616G/A—likely benign
rs75059053317:73,269,626A/T—pathogenic
rs13837652517:73,269,653A/C—conflicting classifications of pathogenicity
rs56100277917:73,269,657C/T—uncertain significance
rs478916417:73,269,676T/C—benign
rs74889932917:73,269,690C/T—uncertain significance
rs14837205317:73,269,698A/C—conflicting classifications of pathogenicity
rs254514401417:73,269,703G/A—likely benign
rs79704596817:73,269,706C/G—uncertain significance
rs20097738917:73,269,716C/T—uncertain significance
rs37204184317:73,269,721C/G—pathogenic
rs77522704117:73,269,726G/A—likely benign
rs54183538117:73,269,731G/A—likely benign
rs478887917:73,272,038C/T——
rs722278417:73,272,060T/Aupstream gene variant—
rs19282447017:73,273,303G/C—benign
rs7399600717:73,273,305A/G—benign
rs116317189417:73,273,426C/T—likely benign
rs75570740017:73,273,427G/A—likely benign
rs75695785417:73,273,447G/A—uncertain significance
rs14790403717:73,273,458C/T—conflicting classifications of pathogenicity
rs254516125317:73,273,460C/T—uncertain significance
rs159818032317:73,273,463A/T—pathogenic
rs78006667517:73,273,464C/G—likely benign
rs155560203317:73,273,480C/T—uncertain significance
rs77325000617:73,273,481G/A—uncertain significance
rs77436763517:73,273,500C/T—likely benign
rs77617213917:73,273,523T/G—uncertain significance
rs76375513917:73,273,567G/T—uncertain significance
rs155560212217:73,273,581G/A—likely benign
rs20010403117:73,273,582G/T—likely benign
rs230621717:73,274,181T/C—benign
rs14160473017:73,274,214C/T—likely benign
rs990104117:73,274,215G/A—benign
rs14709182717:73,274,234A/G—likely benign
rs97087749717:73,274,241T/C—uncertain significance
rs78111872517:73,274,248C/T—uncertain significance
rs20027653817:73,274,254G/A—uncertain significance
rs103097858117:73,274,260C/G—uncertain significance
rs14508871517:73,274,266T/G—uncertain significance
rs56579445117:73,274,285G/C—uncertain significance
rs76939911317:73,274,286C/A—conflicting classifications of pathogenicity
rs130037075417:73,274,300C/G—pathogenic
rs20055582517:73,274,305G/A—likely benign
rs76602176217:73,274,306C/T—likely benign
rs37057859517:73,274,309G/A—likely benign
rs14439378417:73,274,311C/T—conflicting classifications of pathogenicity
rs14565411117:73,274,312G/A—conflicting classifications of pathogenicity
rs75047547417:73,274,315G/C—likely benign
rs76918720717:73,274,326C/G—pathogenic
rs78167626717:73,274,327G/A—likely benign
rs207794591217:73,274,335T/C—uncertain significance
rs11947303017:73,274,346C/Gmissense variantpathogenic
rs77037623217:73,274,365G/T—uncertain significance
rs75915732017:73,274,371C/Tmissense variantpathogenic
rs14847466717:73,274,372G/A—conflicting classifications of pathogenicity
rs76045204617:73,274,379T/A—uncertain significance
rs254516708217:73,274,387C/T—likely benign
rs76653930717:73,274,389C/T—uncertain significance
rs13845275217:73,274,392C/T—conflicting classifications of pathogenicity
rs14228146417:73,274,393G/A—likely benign
rs120899060917:73,274,395C/T—uncertain significance
rs74846945917:73,274,396G/A—likely benign
rs75644692517:73,274,399G/A—likely benign
rs77816694017:73,274,400C/T—uncertain significance
rs55421852517:73,274,406G/A—likely pathogenic
rs254516750217:73,274,409T/C—uncertain significance
rs37133903417:73,274,430C/T—likely benign
rs76181633617:73,274,431G/C—likely benign
rs76662090017:73,274,433A/G—likely benign
rs254516775517:73,274,436T/A—likely benign
rs19962549217:73,274,447C/G—likely benign
rs7786012317:73,274,558G/A—benign
rs7729175817:73,274,615T/C—benign
rs11694462117:73,279,482G/A—likely benign
rs254519071317:73,279,500T/C—uncertain significance
rs155560379617:73,279,509G/T—pathogenic
rs15123793117:73,279,530G/T—uncertain significance
rs37221949917:73,279,535C/T—uncertain significance
rs53259712117:73,279,549G/A—likely benign

Showing 100 of 162 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.