ZC4H2

zinc finger C4H2-type containing

Summary

This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Known Variants127 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2147345575	X:64,137,654	T/C	—	uncertain significance
rs2519689942	X:64,137,680	G/A	—	uncertain significance
rs149235340	X:64,137,684	C/T	—	likely benign
rs758832940	X:64,137,685	G/A	—	uncertain significance
rs1929002470	X:64,137,688	T/C	—	pathogenic
rs2147345630	X:64,137,700	C/T	—	conflicting classifications of pathogenicity
rs879255236	X:64,137,701	G/A	missense variant	pathogenic
rs1555933616	X:64,137,707	G/A	—	likely pathogenic
rs182681228	X:64,137,711	C/G	—	pathogenic
rs1929004208	X:64,137,719	T/G	—	uncertain significance
rs2147345669	X:64,137,720	G/T	—	likely pathogenic
rs1064795753	X:64,137,721	C/A	missense variant	pathogenic
rs6653206	X:64,137,723	A/G	—	likely benign
rs2519690057	X:64,137,725	G/C	—	uncertain significance
rs879255362	X:64,137,730	C/A	missense variant	pathogenic
rs398122939	X:64,137,737	G/A	missense variant	pathogenic
rs1929006117	X:64,137,740	C/T	—	pathogenic
rs879255235	X:64,137,745	C/T	missense variant	pathogenic
rs137962226	X:64,137,746	G/A	—	pathogenic
rs2519690092	X:64,137,747	G/T	—	uncertain significance
rs2147345731	X:64,137,751	A/T	—	uncertain significance
rs2147345743	X:64,137,763	C/T	—	pathogenic
rs2519690121	X:64,137,772	C/G	—	likely pathogenic
rs73627900	X:64,137,890	G/A	—	likely benign
rs139835244	X:64,138,782	C/T	—	likely benign
rs7054809	X:64,138,813	T/C	—	likely benign
rs372437102	X:64,138,903	C/G	—	benign
rs746439376	X:64,138,905	T/C	—	benign
rs1929057022	X:64,138,915	C/T	—	uncertain significance
rs2519691731	X:64,138,921	C/T	—	likely pathogenic
rs1929057155	X:64,138,922	C/T	—	likely pathogenic
rs2519691754	X:64,138,933	G/A	—	uncertain significance
rs1929058159	X:64,138,951	T/C	—	uncertain significance
rs776690547	X:64,138,955	C/T	—	likely benign
rs747730322	X:64,138,956	G/A	—	uncertain significance
rs369918702	X:64,138,981	C/T	—	conflicting classifications of pathogenicity
rs202222942	X:64,138,984	C/G	—	benign
rs763229158	X:64,138,999	C/T	—	likely benign
rs764245063	X:64,139,000	G/A	—	likely benign
rs147190055	X:64,139,006	G/A	—	benign
rs750869999	X:64,139,007	G/A	—	uncertain significance
rs1929064405	X:64,139,013	G/A	—	uncertain significance
rs756615930	X:64,139,014	C/T	—	conflicting classifications of pathogenicity
rs1929066948	X:64,139,029	G/C	—	uncertain significance
rs6524946	X:64,139,051	T/C	—	benign
rs1009987755	X:64,139,052	G/C	—	uncertain significance
rs1260869746	X:64,139,056	G/A	—	pathogenic
rs1929070198	X:64,139,057	C/T	—	pathogenic
rs2147347136	X:64,139,058	C/T	—	likely pathogenic
rs1929070637	X:64,139,064	G/T	—	uncertain significance
rs1602379828	X:64,139,071	G/A	—	pathogenic
rs1555933860	X:64,139,076	T/A	—	uncertain significance
rs751880978	X:64,139,077	C/G	—	uncertain significance
rs763103526	X:64,139,099	G/A	—	benign
rs140551642	X:64,139,942	C/A	—	likely benign
rs200775718	X:64,139,949	C/T	—	likely benign
rs1359797772	X:64,139,966	G/A	—	likely benign
rs2519693678	X:64,139,978	C/T	—	likely benign
rs763449706	X:64,139,993	G/T	—	uncertain significance
rs2147348056	X:64,140,003	C/T	—	uncertain significance
rs958668037	X:64,140,024	C/T	—	uncertain significance
rs2519693818	X:64,140,025	G/A	—	uncertain significance
rs1361669364	X:64,140,028	G/T	—	conflicting classifications of pathogenicity
rs1484560905	X:64,140,043	C/T	—	uncertain significance
rs1929133562	X:64,140,061	C/T	—	uncertain significance
rs2519693922	X:64,140,069	A/G	—	uncertain significance
rs993099141	X:64,140,071	C/T	—	likely benign
rs1256083426	X:64,140,080	A/G	—	likely benign
rs2519693952	X:64,140,083	C/T	—	likely benign
rs2519693960	X:64,140,090	A/G	—	uncertain significance
rs2519693973	X:64,140,098	T/C	—	likely benign
rs778806442	X:64,140,113	T/G	—	uncertain significance
rs2068086975	X:64,140,141	A/T	—	conflicting classifications of pathogenicity
rs772174803	X:64,140,142	T/C	—	likely benign
rs138413117	X:64,141,620	T/A	—	likely benign
rs753687916	X:64,141,681	C/A	—	likely benign
rs778876504	X:64,141,686	C/A	—	benign
rs1057520298	X:64,141,692	C/G	—	pathogenic
rs1929207873	X:64,141,695	A/G	—	pathogenic
rs2147349618	X:64,141,697	C/A	—	likely pathogenic
rs1929207955	X:64,141,701	T/C	—	uncertain significance
rs2519696208	X:64,141,704	A/G	—	uncertain significance
rs1929208826	X:64,141,711	C/T	—	uncertain significance
rs376951408	X:64,141,712	G/A	—	likely benign
rs139208678	X:64,141,718	C/A	—	likely benign
rs1064795680	X:64,141,722	C/T	missense variant	pathogenic
rs1131691616	X:64,141,723	G/A	—	pathogenic
rs1057520297	X:64,141,725	A/T	missense variant	pathogenic
rs1555934273	X:64,141,734	A/G	—	uncertain significance
rs398122938	X:64,141,735	C/G	missense variant	pathogenic
rs2519696326	X:64,141,745	C/A	—	uncertain significance
rs2519696329	X:64,141,750	C/A	—	pathogenic
rs1929211117	X:64,141,752	T/G	—	uncertain significance
rs2519696351	X:64,141,762	G/A	—	uncertain significance
rs2519696376	X:64,141,771	C/G	—	uncertain significance
rs1929212331	X:64,141,773	T/A	—	uncertain significance
rs797044863	X:64,141,774	G/A	stop gained	pathogenic
rs2519696396	X:64,141,780	A/T	—	uncertain significance
rs763567356	X:64,141,793	C/T	—	likely benign
rs1421958601	X:64,141,799	C/T	—	likely benign

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.