TYMP

thymidine phosphorylase

Summary

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]

Known Variants689 total

rsidPosition (GRCh37)AllelesClassClinVar
rs78143112122:50,964,193G/A—likely benign
rs77186460322:50,964,202T/C—likely benign
rs138826273422:50,964,204G/A—uncertain significance
rs20073596822:50,964,207G/A—uncertain significance
rs76854347922:50,964,208C/T—likely benign
rs86322425622:50,964,209G/C—uncertain significance
rs77649609822:50,964,210G/C—uncertain significance
rs76480503222:50,964,211C/T—likely benign
rs320223622:50,964,216G/A—likely benign
rs148965764322:50,964,219C/T—uncertain significance
rs76353342022:50,964,220G/A—likely benign
rs125132412822:50,964,223C/T—likely benign
rs206932850122:50,964,227G/A—uncertain significance
rs75202875122:50,964,229G/A—likely benign
rs214867607722:50,964,232G/A—likely benign
rs37309413722:50,964,235C/T—likely benign
rs1147922:50,964,236G/Amissense variantbenign
rs206932952122:50,964,238G/A—likely benign
rs78018496022:50,964,240G/A—uncertain significance
rs74694111522:50,964,241G/A—likely benign
rs139495111222:50,964,243C/A—uncertain significance
rs115935506922:50,964,244G/A—likely benign
rs76858248022:50,964,246C/A—uncertain significance
rs106120522:50,964,247G/A—likely benign
rs106479289122:50,964,248——pathogenic
rs143274442622:50,964,249A/G—uncertain significance
rs214867615922:50,964,250T/G—likely benign
rs252250071422:50,964,253C/G—likely benign
rs144925379222:50,964,256G/A—likely benign
rs37389379322:50,964,259G/A—likely benign
rs126044733122:50,964,262G/T—likely benign
rs132773243422:50,964,263G/C—uncertain significance
rs75998098722:50,964,267G/C—uncertain significance
rs214867622822:50,964,268T/A—likely benign
rs123456373522:50,964,271G/A—likely benign
rs214867624022:50,964,274C/G—likely benign
rs76097415122:50,964,280C/T—likely benign
rs206933291822:50,964,281T/C—uncertain significance
rs143258183122:50,964,285G/A—likely benign
rs76427577522:50,964,288C/Gmissense variantpathogenic
rs146934905522:50,964,301G/A—likely benign
rs132499776522:50,964,304G/A—likely benign
rs138163281822:50,964,310C/T—likely benign
rs75154472122:50,964,312C/T—uncertain significance
rs206933571322:50,964,313G/C—likely benign
rs206933607522:50,964,316G/C—likely benign
rs89799963922:50,964,319G/C—uncertain significance
rs75492412122:50,964,321C/G—uncertain significance
rs252250205522:50,964,322C/T—likely benign
rs117583859822:50,964,323C/T—uncertain significance
rs206933674322:50,964,324G/A—uncertain significance
rs132932809422:50,964,325G/A—likely benign
rs78115387022:50,964,327G/A—conflicting classifications of pathogenicity
rs99497930422:50,964,328C/T—likely benign
rs106479287522:50,964,337C/Tstop gained—
rs124321342822:50,964,338C/T—pathogenic
rs77735480722:50,964,340G/A—likely benign
rs143246864522:50,964,343G/T—likely benign
rs77043936822:50,964,344G/A—uncertain significance
rs120970298822:50,964,346C/T—likely benign
rs77378593422:50,964,348C/T—pathogenic
rs206933915222:50,964,351C/G—likely benign
rs54852439222:50,964,356C/T—likely benign
rs129780289922:50,964,357G/A—likely benign
rs206933963822:50,964,359G/C—likely benign
rs77251933722:50,964,360G/A—likely benign
rs252250292022:50,964,361G/A—likely benign
rs128930813422:50,964,367T/C—likely benign
rs37623270222:50,964,382C/A—likely benign
rs18316081922:50,964,402G/A—likely benign
rs137268486822:50,964,414C/T—likely benign
rs252250443522:50,964,415G/A—likely benign
rs76205745222:50,964,416G/T—likely benign
rs130904718122:50,964,420C/T—likely benign
rs134962617522:50,964,421G/A—likely benign
rs252250459122:50,964,422G/T—likely benign
rs143500565822:50,964,423C/T—likely benign
rs140154301822:50,964,426T/C—uncertain significance
rs106479287922:50,964,428A/T—pathogenic
rs106479287822:50,964,429C/T—pathogenic
rs214867672622:50,964,432C/A—uncertain significance
rs55197511722:50,964,435C/T—conflicting classifications of pathogenicity
rs57057411122:50,964,440C/T—conflicting classifications of pathogenicity
rs160344180322:50,964,443C/T—likely benign
rs53430288422:50,964,444T/A—uncertain significance
rs113840422:50,964,446A/T—likely benign
rs106479287422:50,964,448C/Tmissense variantpathogenic
rs132086693522:50,964,449C/G—likely benign
rs91505292222:50,964,451C/G—uncertain significance
rs124838204222:50,964,452G/A—likely benign
rs206934811522:50,964,455G/C—likely benign
rs206934823222:50,964,457C/T—uncertain significance
rs118802422922:50,964,458C/A—likely benign
rs156952203322:50,964,460G/C—uncertain significance
rs125194435522:50,964,461C/T—likely benign
rs93209985022:50,964,464C/T—likely benign
rs252250548922:50,964,470G/A—likely benign
rs103596782822:50,964,475C/T—uncertain significance
rs116943906622:50,964,476C/T—likely benign
rs133136322722:50,964,477C/G—uncertain significance

Showing 100 of 689 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.