EYA4

EYA transcriptional coactivator and phosphatase 4

Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Known Variants843 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3813346	6:133,561,646	T/A	—	—
rs112196731	6:133,562,508	C/T	—	likely benign
rs886061084	6:133,562,523	T/C	—	uncertain significance
rs886061085	6:133,562,545	G/T	—	uncertain significance
rs375432060	6:133,562,597	T/C	—	likely benign
rs117602794	6:133,562,627	C/G	—	likely benign
rs886061086	6:133,562,697	C/T	—	uncertain significance
rs112173873	6:133,562,709	C/G	—	likely benign
rs886061088	6:133,562,829	C/T	—	uncertain significance
rs78081370	6:133,562,877	C/T	—	benign
rs473055	6:133,563,454	G/C	regulatory region variant	—
rs528470985	6:133,567,844	A/G	—	—
rs511490	6:133,568,151	T/G	—	—
rs3777781	6:133,568,713	T/G	—	—
rs6903443	6:133,575,048	A/T	—	—
rs211440	6:133,587,743	A/G	intron variant	—
rs56153760	6:133,595,571	G/A	—	benign
rs3734277	6:133,595,684	A/C	—	benign
rs760845191	6:133,595,905	A/G	—	uncertain significance
rs200593099	6:133,595,920	T/C	—	uncertain significance
rs780081930	6:133,595,923	A/G	—	uncertain significance
rs2482318158	6:133,595,925	G/A	—	uncertain significance
rs374322196	6:133,595,927	C/T	—	likely benign
rs1435550328	6:133,595,930	C/T	—	likely benign
rs1253239225	6:133,595,934	G/A	—	uncertain significance
rs1777028540	6:133,595,941	A/G	—	uncertain significance
rs1777028797	6:133,595,942	T/G	—	uncertain significance
rs1191543342	6:133,595,944	A/C	—	uncertain significance
rs1060502996	6:133,595,948	A/G	—	uncertain significance
rs1394230343	6:133,595,950	C/T	—	uncertain significance
rs143613363	6:133,595,951	A/G	—	conflicting classifications of pathogenicity
rs2128268726	6:133,595,953	T/G	—	likely pathogenic
rs1777030034	6:133,595,956	G/C	—	uncertain significance
rs1777030773	6:133,595,962	A/C	—	likely benign
rs759940308	6:133,595,963	T/C	—	likely benign
rs772392856	6:133,595,970	T/C	—	likely benign
rs191747564	6:133,595,988	C/G	—	likely benign
rs61048519	6:133,596,217	T/C	—	benign
rs56377439	6:133,596,227	A/G	—	benign
rs73009608	6:133,609,275	A/T	intron variant	—
rs17301249	6:133,612,914	G/C	intron variant	—
rs6906502	6:133,621,093	C/A	—	—
rs10485232	6:133,636,811	G/A	intron variant	—
rs450886	6:133,652,166	T/A	—	—
rs390700	6:133,653,203	T/C	intron variant	—
rs141640977	6:133,654,405	A/G	intron variant	—
rs296418	6:133,656,063	A/G	intron variant	—
rs35350600	6:133,662,910	G/A	regulatory region variant	—
rs11753937	6:133,663,589	C/T	intron variant	—
rs141475459	6:133,698,568	C/T	intron variant	—
rs2235485	6:133,703,325	A/G	—	benign
rs529373917	6:133,703,424	T/A	—	—
rs769267844	6:133,703,513	G/C	—	likely benign
rs373611331	6:133,703,514	T/C	—	likely benign
rs2128480628	6:133,703,532	A/G	—	likely benign
rs1786297235	6:133,703,533	A/G	—	uncertain significance
rs775725988	6:133,703,534	A/G	—	uncertain significance
rs758104829	6:133,703,535	G/C	—	uncertain significance
rs552148856	6:133,703,536	A/G	—	uncertain significance
rs1359824142	6:133,703,539	A/G	—	uncertain significance
rs769070323	6:133,703,540	C/T	—	uncertain significance
rs145724851	6:133,703,541	G/A	—	likely benign
rs1038991613	6:133,703,547	A/G	—	likely benign
rs1786299526	6:133,703,550	A/G	—	likely benign
rs779385322	6:133,703,555	A/G	—	uncertain significance
rs1786300577	6:133,703,558	T/G	—	uncertain significance
rs2128480683	6:133,703,562	A/G	—	likely benign
rs1293420539	6:133,703,563	C/T	—	pathogenic
rs1356813658	6:133,703,565	A/G	—	likely benign
rs2484393718	6:133,703,566	T/C	—	likely benign
rs765403139	6:133,703,571	G/A	—	likely benign
rs1060502995	6:133,703,584	A/G	—	uncertain significance
rs200479266	6:133,703,585	G/C	—	uncertain significance
rs766555155	6:133,703,590	A/T	—	likely benign
rs2484394950	6:133,703,599	A/G	—	likely benign
rs10484668	6:133,703,698	T/C	—	benign
rs115574222	6:133,703,854	T/A	—	likely benign
rs577889540	6:133,757,281	C/T	—	—
rs557730856	6:133,767,485	A/G	—	likely benign
rs2076256	6:133,767,532	G/C	—	benign
rs543835016	6:133,767,759	C/G	—	likely benign
rs1439173525	6:133,767,764	C/T	—	likely benign
rs1792870627	6:133,767,768	G/T	—	uncertain significance
rs1792870924	6:133,767,770	C/G	—	uncertain significance
rs1026869914	6:133,767,772	A/C	—	uncertain significance
rs1554259054	6:133,767,773	T/A	—	uncertain significance
rs1792872485	6:133,767,780	G/A	—	uncertain significance
rs2534337764	6:133,767,782	A/C	—	uncertain significance
rs35562371	6:133,767,787	C/G	—	conflicting classifications of pathogenicity
rs372319742	6:133,767,794	G/A	—	uncertain significance
rs35863035	6:133,767,795	T/C	—	likely benign
rs1221439195	6:133,767,800	A/G	—	uncertain significance
rs2534338170	6:133,767,803	C/T	—	uncertain significance
rs2534338232	6:133,767,805	C/A	—	uncertain significance
rs1251312987	6:133,767,808	G/C	—	uncertain significance
rs886039161	6:133,767,815	G/A	—	uncertain significance
rs2534338537	6:133,767,820	G/C	—	uncertain significance
rs1439822731	6:133,767,821	A/G	—	uncertain significance
rs752686762	6:133,767,825	T/G	—	likely benign
rs932450184	6:133,767,832	A/T	—	uncertain significance

Showing 100 of 843 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.