ALX3

ALX homeobox 3

Summary

This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]

Known Variants59 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs369347396	1:110,603,383	G/A	—	uncertain significance
rs141042736	1:110,603,389	T/G	—	uncertain significance
rs1162784148	1:110,603,394	C/G	—	uncertain significance
rs756156186	1:110,603,399	C/T	—	uncertain significance
rs771690383	1:110,603,412	G/A	—	likely benign
rs376262878	1:110,603,428	T/C	—	uncertain significance
rs34775503	1:110,603,472	G/A	—	benign
rs370347653	1:110,603,511	C/T	—	likely benign
rs866030551	1:110,603,525	G/A	—	uncertain significance
rs2524427696	1:110,603,609	G/A	—	uncertain significance
rs145995775	1:110,603,639	G/C	—	likely benign
rs199753639	1:110,604,076	C/T	—	uncertain significance
rs778041172	1:110,604,086	C/T	—	uncertain significance
rs745653169	1:110,604,097	T/C	—	uncertain significance
rs375503292	1:110,604,118	C/T	—	conflicting classifications of pathogenicity
rs1570936416	1:110,604,138	A/G	—	likely benign
rs781127904	1:110,604,149	G/T	—	uncertain significance
rs113851340	1:110,604,153	C/T	—	likely benign
rs121908166	1:110,604,172	T/C	missense variant	pathogenic
rs1570936479	1:110,604,187	T/A	—	pathogenic
rs1077581	1:110,606,946	C/G	—	benign
rs1077580	1:110,607,019	A/G	—	benign
rs2524435705	1:110,607,211	G/A	—	pathogenic
rs121908170	1:110,607,217	G/A	missense variant	pathogenic
rs2524435814	1:110,607,247	G/C	—	uncertain significance
rs121908168	1:110,607,256	G/A	missense variant	pathogenic
rs121908169	1:110,607,260	A/T	stop gained	pathogenic
rs767866679	1:110,607,293	C/A	—	uncertain significance
rs121908167	1:110,607,301	G/C	missense variant	pathogenic
rs147534614	1:110,607,323	G/A	—	likely benign
rs931317861	1:110,607,365	C/T	—	likely benign
rs150660098	1:110,607,389	C/T	—	benign
rs2524436323	1:110,607,397	G/C	—	uncertain significance
rs766497153	1:110,607,410	G/C	—	uncertain significance
rs2101797218	1:110,607,411	C/T	—	uncertain significance
rs2524436550	1:110,607,439	G/A	—	pathogenic
rs138645472	1:110,607,454	C/T	—	uncertain significance
rs372198014	1:110,607,457	C/G	—	uncertain significance
rs181886020	1:110,607,531	A/G	—	benign
rs3768470	1:110,612,662	A/G	—	benign
rs705280	1:110,612,727	T/C	—	benign
rs2274568	1:110,612,925	G/A	—	benign
rs751418045	1:110,613,003	C/T	—	uncertain significance
rs545925004	1:110,613,031	G/A	—	benign
rs754614088	1:110,613,042	C/T	—	uncertain significance
rs372506798	1:110,613,044	G/A	—	uncertain significance
rs1219901152	1:110,613,053	A/T	—	uncertain significance
rs2524446621	1:110,613,054	G/C	—	uncertain significance
rs757496737	1:110,613,069	G/A	—	uncertain significance
rs375790592	1:110,613,080	G/A	—	likely benign
rs774644842	1:110,613,098	G/C	—	uncertain significance
rs1371658245	1:110,613,108	G/A	—	uncertain significance
rs1460726387	1:110,613,117	G/C	—	uncertain significance
rs1653892880	1:110,613,119	T/A	—	uncertain significance
rs1348399808	1:110,613,124	G/C	—	uncertain significance
rs1653893070	1:110,613,126	G/A	—	uncertain significance
rs893323237	1:110,613,143	G/C	—	uncertain significance
rs1011770350	1:110,613,151	C/T	—	likely benign
rs1309475385	1:110,613,215	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.