GLI3

GLI family zinc finger 3

Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

Known Variants923 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs66495651	7:42,000,501	T/C	—	benign
rs115519476	7:42,000,536	C/A	—	benign
rs886062310	7:42,000,559	G/T	—	uncertain significance
rs553151369	7:42,000,619	G/T	—	conflicting classifications of pathogenicity
rs73096902	7:42,000,666	T/C	—	likely benign
rs372628047	7:42,000,690	G/A	—	benign
rs886062311	7:42,000,834	A/G	—	uncertain significance
rs3735361	7:42,000,924	C/T	3 prime UTR variant	benign
rs1484040578	7:42,000,926	T/C	—	uncertain significance
rs1787010195	7:42,001,067	A/C	—	uncertain significance
rs553265449	7:42,001,069	C/T	—	benign
rs3823720	7:42,001,171	G/A	3 prime UTR variant	benign
rs1050141162	7:42,001,184	A/C	—	uncertain significance
rs193192167	7:42,001,213	C/T	—	likely benign
rs886062312	7:42,001,252	G/A	—	uncertain significance
rs117987369	7:42,001,262	C/T	—	conflicting classifications of pathogenicity
rs56158069	7:42,001,308	G/C	—	conflicting classifications of pathogenicity
rs1583724689	7:42,001,316	T/C	—	uncertain significance
rs568690074	7:42,001,411	C/T	—	conflicting classifications of pathogenicity
rs886062313	7:42,001,420	C/G	—	uncertain significance
rs886062314	7:42,001,463	C/G	—	uncertain significance
rs886062315	7:42,001,509	A/G	—	uncertain significance
rs562705224	7:42,001,571	A/T	—	likely benign
rs138209843	7:42,001,581	G/T	—	likely benign
rs568393106	7:42,001,652	A/G	—	conflicting classifications of pathogenicity
rs886062316	7:42,001,671	T/A	—	uncertain significance
rs886062317	7:42,001,712	A/G	—	uncertain significance
rs1486012871	7:42,001,752	C/G	—	uncertain significance
rs185099021	7:42,001,811	T/C	—	benign
rs865942966	7:42,001,839	C/T	—	uncertain significance
rs539931592	7:42,001,857	G/A	—	likely benign
rs573860484	7:42,001,878	A/C	—	benign
rs73318085	7:42,001,909	G/A	—	benign
rs886062318	7:42,002,070	G/A	—	uncertain significance
rs886062319	7:42,002,148	G/A	—	uncertain significance
rs181261768	7:42,002,237	G/A	—	benign
rs886062320	7:42,002,240	G/C	—	uncertain significance
rs183853326	7:42,002,305	T/C	—	benign
rs1787043241	7:42,002,375	A/C	—	uncertain significance
rs886062321	7:42,002,457	G/A	—	uncertain significance
rs1156419367	7:42,002,458	T/G	—	uncertain significance
rs566417596	7:42,002,464	T/C	—	benign
rs148318176	7:42,002,517	C/T	—	benign
rs1160002644	7:42,002,529	A/G	—	uncertain significance
rs886062322	7:42,002,542	T/C	—	uncertain significance
rs886062323	7:42,002,562	G/A	—	uncertain significance
rs761351887	7:42,002,596	G/A	—	uncertain significance
rs116029585	7:42,002,631	C/T	—	benign
rs77126593	7:42,002,632	G/A	—	benign
rs886062324	7:42,002,665	G/A	—	uncertain significance
rs886062325	7:42,002,689	A/T	—	uncertain significance
rs76023240	7:42,002,841	T/A	—	benign
rs58924064	7:42,002,848	C/T	—	benign
rs886062326	7:42,002,901	G/A	—	uncertain significance
rs886062327	7:42,002,921	C/T	—	uncertain significance
rs886062328	7:42,002,954	A/T	—	uncertain significance
rs139782938	7:42,002,985	C/T	—	benign
rs187664615	7:42,003,017	T/C	—	benign
rs1318388633	7:42,003,039	A/G	—	uncertain significance
rs116986447	7:42,003,081	G/T	—	benign
rs73688609	7:42,003,093	C/T	—	benign
rs114615136	7:42,003,187	T/C	—	benign
rs118157739	7:42,003,202	T/C	—	benign
rs77197280	7:42,003,273	T/C	—	benign
rs182121145	7:42,003,325	T/C	—	benign
rs886062329	7:42,003,339	A/G	—	uncertain significance
rs886062330	7:42,003,416	G/A	—	uncertain significance
rs2051935	7:42,003,500	A/G	—	benign
rs951401550	7:42,003,542	T/C	—	uncertain significance
rs1787080355	7:42,003,595	T/C	—	uncertain significance
rs190531579	7:42,003,596	A/G	—	likely benign
rs1189349323	7:42,003,617	A/T	—	uncertain significance
rs201493390	7:42,003,663	T/G	—	conflicting classifications of pathogenicity
rs6972450	7:42,003,679	T/A	—	benign
rs61091998	7:42,003,680	A/T	—	conflicting classifications of pathogenicity
rs531678760	7:42,003,743	C/T	—	conflicting classifications of pathogenicity
rs886062333	7:42,003,763	T/C	—	uncertain significance
rs78794712	7:42,003,792	A/T	—	benign
rs1787093147	7:42,003,855	G/A	—	uncertain significance
rs886062334	7:42,003,862	C/A	—	uncertain significance
rs77886553	7:42,003,898	C/A	—	benign
rs761585918	7:42,003,900	G/A	—	benign
rs139896177	7:42,003,917	T/C	—	likely benign
rs187024593	7:42,003,919	T/C	—	benign
rs375653915	7:42,003,931	T/C	—	likely benign
rs750622081	7:42,003,940	T/C	—	likely benign
rs555888138	7:42,003,959	T/C	—	likely benign
rs577522844	7:42,003,961	C/T	—	benign
rs41305933	7:42,003,962	G/A	—	conflicting classifications of pathogenicity
rs905011458	7:42,003,973	C/T	—	likely benign
rs2484361036	7:42,003,988	G/C	—	uncertain significance
rs2128704685	7:42,003,989	T/C	—	uncertain significance
rs760205624	7:42,003,991	C/T	—	likely benign
rs1360348103	7:42,003,994	G/T	—	likely benign
rs2128704689	7:42,003,995	A/G	—	uncertain significance
rs1583727133	7:42,003,996	T/C	—	uncertain significance
rs151254859	7:42,004,017	T/G	—	likely benign
rs756335435	7:42,004,022	A/G	—	likely benign
rs2484361448	7:42,004,029	G/A	—	uncertain significance
rs373789617	7:42,004,031	A/T	—	likely benign

Showing 100 of 923 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.