FLT3LG

fms related receptor tyrosine kinase 3 ligand

Summary

Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]

Known Variants18 total

rsidPosition (GRCh37)AllelesClassClinVar
rs294687119:49,977,458C/Gregulatory region variant
rs251397016819:49,977,901C/Tlikely benign
rs7575099819:49,977,929A/Gbenign
rs13914593319:49,978,979C/Tuncertain significance
rs119558101219:49,979,723G/Auncertain significance
rs76678320519:49,979,735G/Auncertain significance
rs75216020419:49,979,779C/Guncertain significance
rs75559810519:49,979,780G/Auncertain significance
rs7905885819:49,979,789C/Tmissense variant
rs18892237619:49,981,533G/Aintron variant
rs75235111419:49,982,167C/Guncertain significance
rs145116350519:49,982,242C/Tuncertain significance
rs1245916919:49,983,068T/Cintron variant
rs14450491319:49,983,351G/Aintron variant
rs20000937519:49,983,614G/Tuncertain significance
rs55985552419:49,983,684G/Auncertain significance
rs20116037219:49,983,705G/Auncertain significance
rs18935505919:49,985,603G/Aintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.