KITLG

KIT ligand

Summary

This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants97 total

rsidPosition (GRCh37)AllelesClassClinVar
rs64274215:48,426,484A/Gintergenic variantaffects
rs99503012:88,890,671A/G3 prime UTR variant—
rs37292717512:88,899,027G/T—likely benign
rs37704862512:88,899,053A/T—likely benign
rs159283770012:88,900,147C/T—likely benign
rs76814658812:88,900,157T/C—conflicting classifications of pathogenicity
rs1050695312:88,900,246G/T—benign
rs18392490312:88,900,781A/T—likely benign
rs20014728512:88,900,811G/A—likely benign
rs76110798712:88,900,813A/G—uncertain significance
rs77901383912:88,900,820T/C—likely benign
rs104025808212:88,900,839A/G—uncertain significance
rs76903924912:88,900,880T/A—likely benign
rs36978884412:88,900,887G/A—uncertain significance
rs37352141112:88,900,890T/C—uncertain significance
rs4128311212:88,900,891C/A—benign
rs19071106312:88,909,178A/C—likely benign
rs133044163212:88,909,327G/C—uncertain significance
rs134596708412:88,909,342G/A—likely benign
rs249914618612:88,909,368A/G—uncertain significance
rs14268541512:88,909,400T/C—benign
rs212083461112:88,910,112T/C—uncertain significance
rs76765394212:88,910,122C/T—uncertain significance
rs76178600612:88,910,161G/A—likely benign
rs75101321112:88,910,188A/G—pathogenic
rs57371970012:88,910,202A/G—likely benign
rs78090045612:88,910,207T/A—uncertain significance
rs249914755712:88,910,243G/A—uncertain significance
rs77112108412:88,910,245C/G—uncertain significance
rs249914758512:88,910,255A/T—uncertain significance
rs74616277012:88,910,266T/C—uncertain significance
rs249914762712:88,910,268C/T—uncertain significance
rs77558423612:88,910,275A/G—likely benign
rs229155712:88,910,307C/T—benign
rs1085875312:88,910,470T/G—benign
rs1272156112:88,912,458A/T—benign
rs37556881412:88,912,494C/T—uncertain significance
rs130849463512:88,912,498C/A—uncertain significance
rs249915014312:88,912,517A/T—uncertain significance
rs36855641012:88,912,518T/C—uncertain significance
rs86430965512:88,912,527G/C—uncertain significance
rs75921704812:88,912,556C/G—uncertain significance
rs76729252912:88,912,582C/G—likely benign
rs212084089212:88,912,611G/C—uncertain significance
rs1701578212:88,912,624G/A—benign
rs86430965412:88,912,635———
rs249915040312:88,912,645C/T—uncertain significance
rs76870756412:88,912,655T/A—likely benign
rs186955646512:88,912,660A/C—likely benign
rs20131330212:88,912,688T/C—likely benign
rs149234712:88,925,973T/C—benign
rs484247712:88,926,072C/T—benign
rs146179579812:88,926,232C/T—uncertain significance
rs6192470512:88,926,233G/A—likely benign
rs374145712:88,926,250T/C—benign
rs76138780412:88,926,290C/A—likely benign
rs20196944612:88,926,302T/A—benign
rs18722684012:88,939,507C/T—benign
rs13918342512:88,939,508G/A—likely benign
rs212091233412:88,939,515C/G—likely benign
rs77245375212:88,939,537T/G—uncertain significance
rs105752053912:88,939,550A/Tmissense variantpathogenic
rs12191865312:88,939,551T/Cmissense variantpathogenic
rs249918419112:88,939,552T/G—likely pathogenic
rs76197759812:88,939,555T/C—uncertain significance
rs73088215712:88,939,558T/Gmissense variantpathogenic
rs73088215612:88,939,560A/Gmissense variantpathogenic
rs187069964012:88,939,564G/A—pathogenic
rs14031690412:88,939,591C/T—conflicting classifications of pathogenicity
rs14546393012:88,939,592G/A—likely benign
rs146002238612:88,939,595A/T—uncertain significance
rs77739987512:88,939,600T/A—uncertain significance
rs74900015812:88,939,609G/A—uncertain significance
rs75674181512:88,939,624T/C—uncertain significance
rs249918436612:88,939,644T/C—likely pathogenic
rs7957833612:88,939,761A/T—likely benign
rs36950455112:88,939,779C/T—benign
rs11185031512:88,939,780G/T—likely benign
rs11690338912:88,939,790T/C—benign
rs3561868812:88,940,157G/Aregulatory region variant—
rs1110494512:88,942,156G/Aintron variant—
rs1110494812:88,943,793T/A——
rs187368112:88,952,529G/C——
rs378217912:88,953,326C/Tintron variant—
rs378218112:88,953,561C/Aregulatory region variant—
rs459095212:88,953,659A/T——
rs447451412:88,953,959G/C——
rs204697112:88,959,510G/Cintron variant—
rs19005431812:88,973,762G/T—likely benign
rs77784478912:88,974,033C/G—likely benign
rs249922949112:88,974,035A/G—uncertain significance
rs159259375112:88,974,039A/T—uncertain significance
rs212100329012:88,974,047C/T—uncertain significance
rs249922953312:88,974,054A/T—uncertain significance
rs76859910412:88,974,071T/G—likely benign
rs1272156012:88,974,265C/A—benign
rs1282125612:89,328,335T/Cregulatory region variantaffects

Gene information from NCBI Gene. Variant classifications from ClinVar.