HOXB13

homeobox B13

Summary

This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]

Known Variants866 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13821319717:46,745,977G/Amissense variantpathogenic
rs159793202617:46,803,999C/T—uncertain significance
rs159793204017:46,804,000C/G—uncertain significance
rs90042319217:46,804,004G/T—uncertain significance
rs159793205717:46,804,006A/C—uncertain significance
rs159793206817:46,804,010G/T—uncertain significance
rs159793207517:46,804,012C/A—uncertain significance
rs92536868917:46,804,014A/C—uncertain significance
rs159793208817:46,804,015G/A—uncertain significance
rs159793209317:46,804,016C/G—uncertain significance
rs159793209817:46,804,017A/C—uncertain significance
rs159793210117:46,804,020C/G—uncertain significance
rs159793210217:46,804,021A/G—uncertain significance
rs159793210617:46,804,022G/T—uncertain significance
rs159793213517:46,804,033A/T—uncertain significance
rs159793215517:46,804,038G/T—uncertain significance
rs159793216717:46,804,042T/A—uncertain significance
rs159793217317:46,804,044T/C—uncertain significance
rs159793219217:46,804,057C/A—uncertain significance
rs159793220617:46,804,062G/A—uncertain significance
rs159793221317:46,804,066C/T—uncertain significance
rs159793221617:46,804,072C/G—uncertain significance
rs159793222117:46,804,074C/G—uncertain significance
rs14117959217:46,804,095C/T—likely benign
rs159793225417:46,804,107A/C—uncertain significance
rs159793227317:46,804,119C/T—uncertain significance
rs133337267317:46,804,123C/G—uncertain significance
rs37175325717:46,804,124G/T—benign
rs159793229517:46,804,125C/G—uncertain significance
rs159793230617:46,804,130C/A—uncertain significance
rs77687975217:46,804,137A/G—uncertain significance
rs159793234617:46,804,142A/G—uncertain significance
rs128591291417:46,804,151C/A—uncertain significance
rs214306498617:46,804,152T/C—likely benign
rs155555844017:46,804,154A/C—uncertain significance
rs159793238017:46,804,155A/G—uncertain significance
rs250951267717:46,804,156G/C—uncertain significance
rs119660597717:46,804,157G/A—uncertain significance
rs37473684417:46,804,158G/A—likely benign
rs159793238617:46,804,159G/A—uncertain significance
rs129592637617:46,804,160T/C—uncertain significance
rs250951269117:46,804,161A/G—likely benign
rs214306509817:46,804,162G/A—uncertain significance
rs75272252317:46,804,163C/G—uncertain significance
rs76304750017:46,804,164G/T—uncertain significance
rs76396033317:46,804,165C/G—uncertain significance
rs203821483217:46,804,166T/C—uncertain significance
rs159793240417:46,804,167G/T—uncertain significance
rs159793240617:46,804,169T/C—uncertain significance
rs159793240917:46,804,170C/T—uncertain significance
rs20099738417:46,804,175C/A—conflicting classifications of pathogenicity
rs214306520617:46,804,176C/G—uncertain significance
rs250951273817:46,804,177T/C—uncertain significance
rs159793243017:46,804,178T/G—uncertain significance
rs75715519317:46,804,179G/A—conflicting classifications of pathogenicity
rs159793243517:46,804,180G/C—uncertain significance
rs19188693017:46,804,181C/T—uncertain significance
rs75015609417:46,804,182G/A—likely benign
rs159793244317:46,804,186A/C—uncertain significance
rs75583817817:46,804,187C/A—uncertain significance
rs116338393817:46,804,188C/G—uncertain significance
rs214306533117:46,804,189T/C—uncertain significance
rs214306534617:46,804,190T/A—uncertain significance
rs159793245217:46,804,191C/A—uncertain significance
rs250951277017:46,804,192T/C—uncertain significance
rs250951277217:46,804,193T/A—pathogenic
rs159793246117:46,804,194C/A—uncertain significance
rs250951278417:46,804,195T/C—uncertain significance
rs159793246717:46,804,196C/T—uncertain significance
rs214306542217:46,804,197T/C—likely benign
rs140996199817:46,804,198T/C—uncertain significance
rs203821541717:46,804,199T/C—uncertain significance
rs128965946517:46,804,200G/C—uncertain significance
rs159793247917:46,804,202C/A—uncertain significance
rs77969273617:46,804,203C/A—conflicting classifications of pathogenicity
rs74878218317:46,804,204C/T—uncertain significance
rs76816820917:46,804,205G/C—uncertain significance
rs135813196517:46,804,206G/A—likely benign
rs140312775517:46,804,207C/G—uncertain significance
rs77819714517:46,804,208G/C—uncertain significance
rs99084394617:46,804,209G/T—uncertain significance
rs159793251517:46,804,210T/G—uncertain significance
rs159793252117:46,804,211T/G—uncertain significance
rs129103886217:46,804,212C/A—uncertain significance
rs214306569717:46,804,215A/C—uncertain significance
rs155555845017:46,804,216A/G—uncertain significance
rs159793253317:46,804,217A/C—uncertain significance
rs250951286617:46,804,218C/G—uncertain significance
rs214306575617:46,804,219C/T—uncertain significance
rs74748388717:46,804,220A/G—uncertain significance
rs203821586417:46,804,221G/C—uncertain significance
rs214306579217:46,804,222A/G—uncertain significance
rs120742978017:46,804,223T/G—uncertain significance
rs124965959717:46,804,224G/T—conflicting classifications of pathogenicity
rs214306583117:46,804,225G/C—uncertain significance
rs214306583717:46,804,227A/T—likely benign
rs126901867617:46,804,228A/T—uncertain significance
rs203821599017:46,804,229T/C—uncertain significance
rs250951289317:46,804,230C/G—uncertain significance
rs159793256417:46,804,231T/G—uncertain significance

Showing 100 of 866 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.