LOXHD1

lipoxygenase homology PLAT domains 1

Summary

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

Known Variants2,051 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs74421427	18:44,057,011	T/G	—	benign
rs142931455	18:44,057,151	C/T	—	conflicting classifications of pathogenicity
rs727504587	18:44,057,163	C/A	—	uncertain significance
rs144543819	18:44,057,311	T/C	—	uncertain significance
rs569671846	18:44,057,339	C/T	—	conflicting classifications of pathogenicity
rs181233520	18:44,057,341	A/G	—	uncertain significance
rs748582582	18:44,057,362	T/A	—	uncertain significance
rs778387862	18:44,057,416	G/A	—	uncertain significance
rs876657856	18:44,057,431	C/T	—	uncertain significance
rs950165733	18:44,057,445	G/A	—	uncertain significance
rs546013887	18:44,057,463	G/A	—	uncertain significance
rs1401069930	18:44,057,465	G/A	—	likely benign
rs115835484	18:44,057,474	C/T	—	conflicting classifications of pathogenicity
rs2143414485	18:44,057,477	C/G	—	likely benign
rs753209859	18:44,057,478	C/G	—	uncertain significance
rs758776787	18:44,057,479	G/A	—	uncertain significance
rs764655234	18:44,057,480	C/T	—	likely benign
rs2143414791	18:44,057,486	G/A	—	likely benign
rs2032104624	18:44,057,490	A/G	—	uncertain significance
rs756765007	18:44,057,494	A/G	—	uncertain significance
rs781010836	18:44,057,498	G/A	—	likely benign
rs2511329602	18:44,057,506	T/G	—	uncertain significance
rs755975565	18:44,057,507	G/A	—	likely benign
rs1808110432	18:44,057,513	G/T	—	likely benign
rs779935366	18:44,057,514	G/A	—	uncertain significance
rs189873733	18:44,057,516	G/A	—	conflicting classifications of pathogenicity
rs768545020	18:44,057,521	C/T	—	uncertain significance
rs370924592	18:44,057,522	G/A	—	likely benign
rs1425657509	18:44,057,524	C/T	—	uncertain significance
rs774313483	18:44,057,525	G/A	—	likely benign
rs561740845	18:44,057,526	G/A	—	uncertain significance
rs770501543	18:44,057,531	G/A	—	likely benign
rs528843705	18:44,057,534	G/A	—	conflicting classifications of pathogenicity
rs776112233	18:44,057,541	A/G	—	uncertain significance
rs997971610	18:44,057,543	C/T	—	likely benign
rs1555651054	18:44,057,547	A/C	—	uncertain significance
rs1399754571	18:44,057,551	T/C	—	uncertain significance
rs2143416626	18:44,057,552	C/T	—	likely benign
rs1218049916	18:44,057,558	C/T	—	likely benign
rs1299913386	18:44,057,564	G/T	—	likely benign
rs2143417127	18:44,057,573	G/A	—	likely benign
rs2032117759	18:44,057,574	T/C	—	uncertain significance
rs1352589327	18:44,057,581	T/C	—	uncertain significance
rs759690810	18:44,057,588	G/A	—	likely benign
rs1030153414	18:44,057,591	C/T	—	likely benign
rs982649001	18:44,057,593	C/T	—	uncertain significance
rs2143418193	18:44,057,597	G/T	—	likely benign
rs886053822	18:44,057,598	C/T	—	uncertain significance
rs2511330884	18:44,057,600	C/T	—	likely benign
rs1057521570	18:44,057,606	G/A	—	likely benign
rs955408829	18:44,057,607	C/T	—	uncertain significance
rs548517841	18:44,057,608	G/A	—	uncertain significance
rs2511331062	18:44,057,609	C/T	—	likely benign
rs769490340	18:44,057,617	C/T	—	uncertain significance
rs1159626281	18:44,057,618	C/A	—	likely benign
rs2143419021	18:44,057,620	G/A	—	likely benign
rs2511331269	18:44,057,626	G/C	—	uncertain significance
rs764553662	18:44,057,627	C/A	—	likely benign
rs1368964159	18:44,057,633	C/T	—	likely benign
rs756747830	18:44,057,636	G/A	—	likely benign
rs2511331511	18:44,057,642	G/A	—	likely benign
rs2511331612	18:44,057,645	G/A	—	likely benign
rs2511331710	18:44,057,651	G/A	—	likely benign
rs755887594	18:44,057,654	G/T	—	likely benign
rs2511331810	18:44,057,656	C/T	—	uncertain significance
rs1319726197	18:44,057,657	C/T	—	likely benign
rs148468627	18:44,057,658	C/T	—	conflicting classifications of pathogenicity
rs775258656	18:44,057,659	G/T	—	likely benign
rs376559755	18:44,057,662	C/T	—	uncertain significance
rs981453947	18:44,057,663	G/A	—	likely benign
rs1383480417	18:44,057,672	G/C	—	likely benign
rs74316327	18:44,057,673	C/T	—	benign
rs1410560877	18:44,057,685	T/C	—	uncertain significance
rs2511332226	18:44,057,690	C/T	—	likely benign
rs1054650272	18:44,057,692	C/T	—	uncertain significance
rs2511332293	18:44,057,693	C/G	—	likely benign
rs748082132	18:44,057,694	C/T	—	uncertain significance
rs771007568	18:44,057,695	G/A	—	conflicting classifications of pathogenicity
rs892775507	18:44,057,696	C/T	—	likely benign
rs2511332523	18:44,057,705	G/A	—	likely benign
rs2143421838	18:44,057,708	T/G	—	likely benign
rs943633635	18:44,057,710	C/T	—	uncertain significance
rs1446996648	18:44,057,711	G/A	—	likely benign
rs2511332684	18:44,057,714	G/T	—	likely benign
rs763915229	18:44,057,718	C/T	—	pathogenic
rs745938801	18:44,057,731	C/T	—	uncertain significance
rs1323433812	18:44,057,732	G/A	—	likely benign
rs546735322	18:44,057,733	A/G	—	uncertain significance
rs2143423354	18:44,057,735	G/T	—	likely benign
rs1051256203	18:44,057,738	G/A	—	likely benign
rs886042223	18:44,057,741	G/A	—	conflicting classifications of pathogenicity
rs955461617	18:44,057,753	T/C	—	likely benign
rs2143424491	18:44,057,756	C/T	—	likely benign
rs1181635698	18:44,057,759	T/G	—	likely benign
rs200198786	18:44,057,760	G/C	—	uncertain significance
rs774366371	18:44,057,764	C/T	—	uncertain significance
rs1434725624	18:44,057,765	A/C	—	pathogenic
rs568443351	18:44,057,774	T/C	—	likely benign
rs2032151816	18:44,057,776	T/C	—	uncertain significance
rs1004273195	18:44,057,780	G/A	—	likely benign

Showing 100 of 2,051 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.