HNF1B

HNF1 homeobox B

Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Known Variants511 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57400039817:36,046,437T/C—conflicting classifications of pathogenicity
rs1096217:36,046,451G/C—benign
rs7536171017:36,046,571A/G—likely benign
rs88605288717:36,046,586A/G—conflicting classifications of pathogenicity
rs1713851217:36,046,598C/T—likely benign
rs88605288817:36,046,674C/T—conflicting classifications of pathogenicity
rs75181767517:36,046,684T/C—conflicting classifications of pathogenicity
rs14423435217:36,046,692C/T—likely benign
rs18273693017:36,046,716C/T—likely benign
rs56605765817:36,046,746G/A—conflicting classifications of pathogenicity
rs18895712917:36,046,750G/A—conflicting classifications of pathogenicity
rs88605288917:36,046,790A/G—uncertain significance
rs57160731417:36,046,930T/C—uncertain significance
rs268817:36,046,931G/T—benign
rs203198973417:36,046,966T/C—uncertain significance
rs55721674517:36,046,972T/C—benign
rs105816617:36,046,991T/C—benign
rs268917:36,047,101T/A—benign
rs251166945917:36,047,264C/G—uncertain significance
rs180092917:36,047,275T/C—benign
rs222929517:36,047,276G/T—benign
rs76226634317:36,047,287T/C—likely benign
rs76560994317:36,047,308C/T—uncertain significance
rs75030017617:36,047,319A/G—likely benign
rs806801417:36,047,328A/C—benign
rs155581807117:36,047,338C/T—likely benign
rs20042174617:36,047,353C/T—conflicting classifications of pathogenicity
rs74651966217:36,047,357G/A—uncertain significance
rs14435479817:36,047,381G/T—conflicting classifications of pathogenicity
rs88604443717:36,047,386G/T—uncertain significance
rs14779891417:36,047,392G/T—uncertain significance
rs76425530017:36,047,394C/T—uncertain significance
rs251166999117:36,047,397T/A—pathogenic
rs19392248517:36,047,399C/T—conflicting classifications of pathogenicity
rs20057966017:36,047,404A/T—conflicting classifications of pathogenicity
rs19392248417:36,047,406A/G—conflicting classifications of pathogenicity
rs125216963617:36,047,411A/T—likely benign
rs311064117:36,047,417G/A—benign
rs806660517:36,047,501G/A—benign
rs1186851317:36,052,692G/Aintron variant—
rs226984417:36,058,814G/A—benign
rs226984317:36,058,980C/T—benign
rs989041817:36,058,993C/T—benign
rs77579479717:36,059,062G/A—likely benign
rs76886741817:36,059,095G/A—likely pathogenic
rs55188984417:36,059,098A/G—conflicting classifications of pathogenicity
rs91785309217:36,059,100G/A—likely benign
rs214744155617:36,059,101T/C—uncertain significance
rs135290672517:36,059,105T/C—uncertain significance
rs145626052017:36,059,106G/A—likely benign
rs156863674417:36,059,121G/A—conflicting classifications of pathogenicity
rs75379600717:36,059,125G/T—uncertain significance
rs251169598217:36,059,127A/G—likely benign
rs14119398117:36,059,141T/C—conflicting classifications of pathogenicity
rs75248054017:36,059,144C/G—uncertain significance
rs75813075917:36,059,155C/T—uncertain significance
rs77747339217:36,059,156G/A—uncertain significance
rs75122515917:36,059,157G/C—conflicting classifications of pathogenicity
rs105752447917:36,059,174G/Astop gainedpathogenic
rs74541627317:36,059,179G/T—uncertain significance
rs118856924117:36,059,192G/A—uncertain significance
rs141708569317:36,059,195C/T—uncertain significance
rs78055450617:36,059,196G/A—conflicting classifications of pathogenicity
rs251169630017:36,059,197T/C—likely pathogenic
rs137382101817:36,059,206G/A—likely benign
rs37055881017:36,059,212G/A—likely benign
rs203248362817:36,059,215T/A—likely benign
rs251169635917:36,059,217A/G—likely benign
rs1008382917:36,059,244C/G—likely benign
rs226984217:36,059,246A/C—benign
rs1333967217:36,059,302T/C—benign
rs226984117:36,059,377G/A—benign
rs1293843817:36,059,385C/G—benign
rs7514887717:36,059,388G/A—likely benign
rs7283047517:36,060,736C/G—benign
rs218930217:36,060,883T/C—benign
rs75562601617:36,060,972A/G—likely benign
rs37387582017:36,060,977C/T—likely benign
rs36816856917:36,060,978G/A—likely benign
rs251170004117:36,060,997T/G—uncertain significance
rs74856834517:36,061,014G/A—uncertain significance
rs100500556717:36,061,015C/T—uncertain significance
rs203254857817:36,061,017G/A—uncertain significance
rs77236210717:36,061,018C/T—likely pathogenic
rs132838333117:36,061,021T/C—uncertain significance
rs156863820917:36,061,032T/G—uncertain significance
rs77356956317:36,061,034G/A—conflicting classifications of pathogenicity
rs121011889517:36,061,038A/T—conflicting classifications of pathogenicity
rs148461288417:36,061,039T/C—uncertain significance
rs18755636817:36,061,048C/T—likely benign
rs156863826217:36,061,062A/C—uncertain significance
rs147117003017:36,061,067G/A—likely benign
rs214744699717:36,061,081G/C—uncertain significance
rs251170055317:36,061,086T/C—uncertain significance
rs57487696317:36,061,088C/T—likely benign
rs136293767717:36,061,093G/A—pathogenic
rs88605289117:36,061,104T/C—conflicting classifications of pathogenicity
rs76284174617:36,061,108C/T—conflicting classifications of pathogenicity
rs14078185517:36,061,109G/A—likely benign
rs251170070117:36,061,114G/A—pathogenic

Showing 100 of 511 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.