DHFR

dihydrofolate reductase

Summary

Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Known Variants108 total

rsidPosition (GRCh37)AllelesClassClinVar
rs73875:79,924,791T/Adownstream gene variant—
rs15805086115:79,924,912A/G—likely benign
rs13825922925:79,924,918C/T—likely benign
rs14775238535:79,924,920C/T—uncertain significance
rs3676576435:79,924,924T/C—likely benign
rs25466882525:79,924,957C/T—likely benign
rs14451736615:79,924,958T/C—uncertain significance
rs21127608255:79,924,969G/A—likely benign
rs21127608485:79,924,985C/A—uncertain significance
rs25466882795:79,924,992A/G—likely benign
rs13101816685:79,924,998T/A—likely benign
rs7659585855:79,929,682A/C—likely benign
rs25466922345:79,929,683A/G—likely benign
rs7530224435:79,929,684C/T—likely benign
rs13017248535:79,929,685C/T—likely benign
rs15540643295:79,929,686T/G—likely benign
rs13254936255:79,929,687T/C—likely benign
rs25466922425:79,929,688A/G—likely benign
rs7560261295:79,929,710A/G—likely benign
rs1219132235:79,929,723T/Amissense variantpathogenic
rs9544279335:79,929,733G/C—uncertain significance
rs2019590905:79,929,740C/T—likely benign
rs7684902185:79,929,741G/A—uncertain significance
rs13310108915:79,929,755G/C—uncertain significance
rs1418310675:79,929,763T/G—likely benign
rs15805136945:79,929,764G/A—likely benign
rs12771299855:79,929,789T/C—uncertain significance
rs25466923425:79,929,799G/T—uncertain significance
rs12281538035:79,929,808C/T—uncertain significance
rs25466923555:79,929,817A/T—likely benign
rs12808580705:79,929,826A/G—likely benign
rs25466923605:79,929,829A/G—likely benign
rs2451005:79,933,093A/C——
rs3728735015:79,933,683T/C—likely benign
rs5454893995:79,933,695C/T—likely benign
rs9594684675:79,933,707A/G—uncertain significance
rs9926514015:79,933,718C/T—uncertain significance
rs1996037315:79,933,726T/A—likely benign
rs25466959615:79,933,728T/A—uncertain significance
rs25466959725:79,933,736A/C—uncertain significance
rs25466959755:79,933,737T/G—uncertain significance
rs5307405385:79,933,750T/G—benign
rs21127731015:79,933,759T/C—likely benign
rs10452768665:79,933,761G/C—uncertain significance
rs7463788755:79,933,768A/G—likely benign
rs9422729965:79,933,769G/A—uncertain significance
rs7703650755:79,933,777T/C—likely benign
rs25466960225:79,933,786A/C—uncertain significance
rs13317622835:79,933,789T/C—likely benign
rs7643331315:79,933,797T/C—uncertain significance
rs17483447655:79,933,810A/G—likely benign
rs10009802395:79,933,811G/C—uncertain significance
rs25466960645:79,933,812C/T—uncertain significance
rs7651132805:79,933,844G/C—likely benign
rs16436595:79,934,836T/Cintron variant—
rs16776935:79,936,318G/A——
rs16436495:79,939,449T/Cintron variant—
rs17488654615:79,945,188A/G—likely benign
rs14084417145:79,945,193T/A—likely benign
rs7704532645:79,945,199G/C—likely benign
rs3701364805:79,945,200G/A—likely benign
rs7497357565:79,945,205T/C—uncertain significance
rs5405279305:79,945,208T/C—uncertain significance
rs3879066195:79,945,212G/Amissense variantpathogenic
rs17488679135:79,945,219G/A—uncertain significance
rs7722259655:79,945,225A/G—likely benign
rs7663417615:79,945,241C/T—uncertain significance
rs21127869735:79,945,244T/A—uncertain significance
rs3726064565:79,945,249A/G—likely benign
rs14210500895:79,945,254G/C—uncertain significance
rs25467041595:79,945,255A/G—likely benign
rs14646143355:79,945,256T/C—uncertain significance
rs2002323795:79,945,263C/G—uncertain significance
rs13593614765:79,945,273G/A—conflicting classifications of pathogenicity
rs5428466155:79,945,332A/G—likely benign
rs25467042165:79,945,333G/T—likely benign
rs9762477745:79,945,859A/G—uncertain significance
rs14820756105:79,945,896G/C—uncertain significance
rs25467082045:79,949,808C/T—likely benign
rs12316035235:79,949,813T/C—likely benign
rs7624596175:79,949,817C/T—likely benign
rs7698801025:79,949,818C/T—likely benign
rs17491236085:79,949,826C/T—uncertain significance
rs7731360605:79,949,864T/C—likely benign
rs2017454745:79,949,873A/C—uncertain significance
rs7534261785:79,949,879A/G—uncertain significance
rs5553460665:79,949,880C/T—likely benign
rs25467083155:79,949,889G/A—likely benign
rs7781722875:79,949,896C/G—likely benign
rs709911085:79,950,163——uncertain significance
rs7731890765:79,950,209G/A—likely benign
rs7603546085:79,950,213C/T—likely benign
rs7761675215:79,950,215G/A—benign
rs21127956685:79,950,216C/A—likely benign
rs9399188885:79,950,219A/C—uncertain significance
rs13394460315:79,950,223C/T—uncertain significance
rs21127957045:79,950,237G/A—likely benign
rs3715889435:79,950,242G/A—likely benign
rs17491451855:79,950,246C/G—likely benign
rs17491453455:79,950,248C/T—uncertain significance

Showing 100 of 108 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.