DLK1

delta like non-canonical Notch ligand 1

Summary

This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]

Known Variants60 total

rsidPosition (GRCh37)AllelesClassClinVar
rs375955614:101,192,299A/Gupstream gene variant—
rs2836257014:101,193,139C/T——
rs14349751114:101,193,430C/G—uncertain significance
rs141950524314:101,193,467C/T—uncertain significance
rs36893192914:101,193,470A/G—uncertain significance
rs203644563614:101,193,550C/T—uncertain significance
rs1332903914:101,194,764A/G—likely benign
rs76255866514:101,194,768G/C—uncertain significance
rs14338246614:101,194,777G/T—uncertain significance
rs128921278914:101,194,782T/A—uncertain significance
rs75136018514:101,195,312C/T—likely benign
rs77659867014:101,195,313G/A—likely benign
rs14722400414:101,195,335A/G—benign
rs20071107914:101,195,347G/A—likely benign
rs14055850814:101,195,354C/T—likely benign
rs250363844614:101,195,358C/A—uncertain significance
rs3468611014:101,195,359A/T—benign
rs250363847514:101,195,366T/G—uncertain significance
rs77084545914:101,195,373G/A—uncertain significance
rs132410971114:101,195,385G/C—uncertain significance
rs76190656614:101,195,389A/G—uncertain significance
rs203647634714:101,195,407G/A—likely benign
rs11766743814:101,195,522C/T—likely benign
rs11718223014:101,196,269C/Tintron variant—
rs75585824614:101,198,384C/T—uncertain significance
rs56792472614:101,198,397C/T—uncertain significance
rs227360714:101,198,426G/A—benign
rs77595354614:101,198,431C/A—uncertain significance
rs250364368514:101,198,473C/G—likely pathogenic
rs74598836114:101,198,475C/T—uncertain significance
rs15001675914:101,198,518C/T—likely benign
rs203654082114:101,200,508A/G—uncertain significance
rs11607818114:101,200,514G/T—benign
rs14069762814:101,200,588C/T—likely benign
rs250364814914:101,200,608C/A—uncertain significance
rs14381460414:101,200,618C/T—likely benign
rs37098637514:101,200,631G/A—likely benign
rs180271014:101,200,645T/Gmissense variantbenign
rs75856039414:101,200,646G/A—uncertain significance
rs3442911214:101,200,684C/T—benign
rs76291943014:101,200,775G/A—uncertain significance
rs229566014:101,200,780T/C—benign
rs36815177714:101,200,787A/G—uncertain significance
rs250364899814:101,200,821A/G—uncertain significance
rs75075877614:101,200,823C/T—uncertain significance
rs11701469414:101,200,825C/T—likely benign
rs13865118214:101,200,826G/A—uncertain significance
rs105800914:101,200,860A/G—benign
rs103035028314:101,200,861C/T—likely benign
rs203654889114:101,200,901G/C—uncertain significance
rs3533987714:101,200,921G/A—benign
rs13818593914:101,200,924G/T—uncertain significance
rs14171802314:101,200,955C/T—likely benign
rs57355367314:101,201,014C/A—likely benign
rs14005166014:101,201,044T/C—likely benign
rs14360295614:101,201,112G/A—uncertain significance
rs77765059014:101,201,144A/G—uncertain significance
rs13958414914:101,201,206C/T—benign
rs11534997914:101,201,219G/C—benign
rs75261427414:101,201,222G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.