ELMOD3

ELMO domain containing 3

Summary

This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Known Variants145 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs541213331	2:85,583,873	G/A	—	likely benign
rs2528715551	2:85,584,327	T/C	—	likely benign
rs2528715676	2:85,584,336	T/C	—	likely benign
rs1200235171	2:85,584,367	G/A	—	uncertain significance
rs759029330	2:85,584,379	A/C	—	uncertain significance
rs540660622	2:85,584,389	C/T	—	likely benign
rs777212355	2:85,589,294	T/C	—	likely benign
rs1388869759	2:85,589,310	G/A	—	uncertain significance
rs1191749989	2:85,589,312	G/A	—	uncertain significance
rs1288342333	2:85,589,332	T/G	—	uncertain significance
rs767292222	2:85,589,366	G/A	—	uncertain significance
rs777620422	2:85,589,377	A/G	—	likely benign
rs375905273	2:85,589,388	G/A	—	uncertain significance
rs758673968	2:85,589,396	C/G	—	likely benign
rs114287948	2:85,589,512	T/C	—	likely benign
rs143887529	2:85,590,035	T/C	—	benign
rs185158687	2:85,590,199	A/G	—	likely benign
rs199716491	2:85,590,207	G/A	—	benign
rs1041129101	2:85,590,222	C/T	—	likely benign
rs772120151	2:85,590,238	C/T	—	uncertain significance
rs7564372	2:85,590,286	T/C	—	benign
rs374954571	2:85,590,287	G/A	—	conflicting classifications of pathogenicity
rs146507797	2:85,594,985	G/A	downstream gene variant	—
rs143127882	2:85,595,777	T/C	—	benign
rs373496479	2:85,595,802	A/G	—	likely benign
rs955592	2:85,595,818	T/C	—	benign
rs1049052744	2:85,595,823	G/A	—	uncertain significance
rs1684576093	2:85,595,828	C/G	—	likely benign
rs139481126	2:85,595,863	T/G	—	likely benign
rs370500612	2:85,595,887	C/T	—	likely benign
rs7340198	2:85,595,921	G/C	—	benign
rs7340196	2:85,595,930	C/T	—	benign
rs72840080	2:85,596,043	A/G	—	benign
rs111946526	2:85,596,091	A/G	—	likely benign
rs150599708	2:85,596,585	G/A	—	likely benign
rs3821021	2:85,596,739	A/G	—	benign
rs188058240	2:85,596,849	C/T	—	likely benign
rs368463560	2:85,596,850	G/A	—	likely benign
rs192679508	2:85,596,853	T/C	—	likely benign
rs753265000	2:85,596,891	C/T	—	uncertain significance
rs199798354	2:85,596,898	T/A	—	uncertain significance
rs78809694	2:85,596,906	A/G	—	benign
rs143305924	2:85,596,917	G/A	—	benign
rs1383683449	2:85,596,926	C/G	—	uncertain significance
rs201461413	2:85,596,931	C/A	—	conflicting classifications of pathogenicity
rs73945721	2:85,597,147	C/T	—	benign
rs72840081	2:85,598,056	T/C	—	benign
rs112857214	2:85,598,244	C/T	—	likely benign
rs145555897	2:85,598,245	G/A	—	benign
rs201052944	2:85,598,254	C/T	—	uncertain significance
rs199660149	2:85,598,271	G/A	—	likely benign
rs143960314	2:85,598,275	C/G	—	uncertain significance
rs1684759377	2:85,598,277	A/G	—	likely benign
rs766073287	2:85,598,290	C/A	—	uncertain significance
rs753581498	2:85,598,291	G/A	—	uncertain significance
rs142656005	2:85,598,296	C/T	—	uncertain significance
rs369816241	2:85,598,309	A/C	—	uncertain significance
rs753998682	2:85,598,338	T/A	—	uncertain significance
rs375552296	2:85,598,346	G/A	—	likely benign
rs114220580	2:85,598,389	T/C	—	likely benign
rs184768722	2:85,598,442	C/T	—	likely benign
rs146704263	2:85,598,443	G/A	—	benign
rs147341196	2:85,598,568	C/A	—	uncertain significance
rs1280785617	2:85,598,590	A/G	—	uncertain significance
rs575583374	2:85,598,595	C/G	—	likely benign
rs780663226	2:85,598,626	C/T	—	uncertain significance
rs115378987	2:85,598,627	T/C	—	benign
rs116470781	2:85,598,640	G/A	—	benign
rs1302279937	2:85,598,651	T/C	—	likely benign
rs73945723	2:85,598,883	G/A	—	benign
rs7596381	2:85,600,643	T/A	downstream gene variant	—
rs138012297	2:85,604,430	G/A	—	likely benign
rs377758225	2:85,604,452	C/T	—	likely benign
rs371242294	2:85,604,453	G/A	—	uncertain significance
rs199957784	2:85,604,470	C/T	—	uncertain significance
rs202233755	2:85,604,471	G/C	—	likely benign
rs763092134	2:85,604,489	G/C	—	likely benign
rs142807269	2:85,604,495	C/T	—	likely benign
rs767340376	2:85,604,496	G/A	—	uncertain significance
rs751276835	2:85,604,507	T/C	—	likely benign
rs750932243	2:85,604,554	C/T	—	likely benign
rs756600649	2:85,604,555	G/A	—	likely benign
rs779560360	2:85,604,560	C/T	—	uncertain significance
rs371072018	2:85,604,561	G/A	—	likely benign
rs75956808	2:85,604,565	G/A	—	likely benign
rs1427110016	2:85,604,574	C/T	—	uncertain significance
rs202113724	2:85,604,588	C/T	—	likely benign
rs56265944	2:85,604,838	T/C	—	benign
rs139439662	2:85,609,862	C/T	downstream gene variant	—
rs143448563	2:85,610,023	A/G	downstream gene variant	—
rs549706375	2:85,613,738	C/T	—	—
rs17026285	2:85,616,758	T/C	—	benign
rs564212762	2:85,616,862	C/T	—	likely benign
rs780266533	2:85,616,879	C/A	—	uncertain significance
rs2529145993	2:85,616,896	C/T	—	uncertain significance
rs2104751810	2:85,616,907	A/G	—	uncertain significance
rs2529146296	2:85,616,914	T/A	—	uncertain significance
rs1456754682	2:85,616,922	C/T	—	uncertain significance
rs587777040	2:85,616,929	T/C	missense variant	pathogenic
rs188463261	2:85,616,962	A/G	—	benign

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.