NLGN4X

neuroligin 4 X-linked

Summary

This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Known Variants229 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3810686	X:5,810,574	C/T	—	benign
rs3810687	X:5,810,684	G/T	—	benign
rs3810688	X:5,810,756	C/T	—	benign
rs1461164548	X:5,810,865	C/G	—	uncertain significance
rs1181689310	X:5,810,881	C/T	—	uncertain significance
rs999173635	X:5,810,893	T/C	—	uncertain significance
rs1216283437	X:5,810,904	T/C	—	uncertain significance
rs1232376219	X:5,810,919	G/T	—	uncertain significance
rs1261678121	X:5,810,944	T/A	—	uncertain significance
rs374449420	X:5,810,948	C/T	—	uncertain significance
rs4995611	X:5,810,949	G/A	—	conflicting classifications of pathogenicity
rs2518395670	X:5,810,979	T/C	—	uncertain significance
rs377394394	X:5,810,984	C/T	—	likely benign
rs746531523	X:5,810,985	G/A	—	uncertain significance
rs768321834	X:5,810,988	A/G	—	uncertain significance
rs4995609	X:5,810,992	G/A	—	uncertain significance
rs773004622	X:5,811,008	C/T	—	likely benign
rs1445553567	X:5,811,012	C/T	—	uncertain significance
rs770890880	X:5,811,014	G/C	—	likely benign
rs1323836608	X:5,811,015	C/T	—	uncertain significance
rs760718761	X:5,811,021	G/A	—	uncertain significance
rs764361221	X:5,811,025	G/C	—	uncertain significance
rs75350246	X:5,811,029	G/A	—	likely benign
rs4999056	X:5,811,038	C/T	—	benign
rs886042929	X:5,811,050	C/G	—	uncertain significance
rs956579844	X:5,811,055	G/A	—	likely benign
rs777673585	X:5,811,062	G/A	—	likely benign
rs141662515	X:5,811,083	C/T	—	likely benign
rs541646409	X:5,811,086	G/A	—	likely benign
rs149065055	X:5,811,091	C/T	—	uncertain significance
rs777508939	X:5,811,115	G/A	—	likely benign
rs2146683656	X:5,811,117	G/A	—	uncertain significance
rs2518397436	X:5,811,127	C/T	—	uncertain significance
rs187221748	X:5,811,131	G/A	—	likely benign
rs4017999	X:5,811,180	C/T	—	uncertain significance
rs763458960	X:5,811,181	G/A	—	uncertain significance
rs1413281953	X:5,811,198	C/T	—	uncertain significance
rs751945904	X:5,811,199	G/A	—	uncertain significance
rs1200279731	X:5,811,225	G/A	—	uncertain significance
rs2031290322	X:5,811,229	C/T	—	uncertain significance
rs1131691825	X:5,811,231	A/G	—	uncertain significance
rs147070637	X:5,811,254	G/C	—	likely benign
rs772348674	X:5,811,260	C/T	—	benign
rs770117821	X:5,811,266	G/A	—	likely benign
rs773637232	X:5,811,268	C/T	—	uncertain significance
rs774801410	X:5,811,289	C/T	—	uncertain significance
rs995583516	X:5,811,290	G/A	—	likely benign
rs759923715	X:5,811,304	G/A	—	uncertain significance
rs1198647700	X:5,811,325	T/C	—	uncertain significance
rs147713383	X:5,811,332	C/G	—	likely benign
rs778520251	X:5,811,375	T/C	—	uncertain significance
rs748224577	X:5,811,411	C/T	—	uncertain significance
rs2031306137	X:5,811,412	A/G	—	uncertain significance
rs778014568	X:5,811,422	G/A	—	conflicting classifications of pathogenicity
rs1569110556	X:5,811,429	C/T	—	uncertain significance
rs1226379186	X:5,811,430	G/A	—	uncertain significance
rs1291813149	X:5,811,432	C/T	—	uncertain significance
rs771217116	X:5,811,435	G/A	—	uncertain significance
rs2518400393	X:5,811,450	G/A	—	uncertain significance
rs1183929383	X:5,811,473	C/A	—	uncertain significance
rs2146686298	X:5,811,480	G/A	—	uncertain significance
rs2146686354	X:5,811,497	G/T	—	uncertain significance
rs2031314764	X:5,811,513	T/C	—	uncertain significance
rs3747334	X:5,811,530	G/C	synonymous variant	likely benign
rs3747333	X:5,811,532	G/A	missense variant	likely benign
rs794727809	X:5,811,561	C/T	—	uncertain significance
rs1555913640	X:5,811,562	G/A	—	pathogenic
rs794727810	X:5,811,635	G/A	—	uncertain significance
rs1601840441	X:5,811,648	A/G	—	uncertain significance
rs2031325274	X:5,811,651	C/T	—	uncertain significance
rs371132194	X:5,811,668	A/G	—	likely benign
rs1021946988	X:5,811,695	T/G	—	uncertain significance
rs2031328782	X:5,811,699	T/C	—	uncertain significance
rs61095217	X:5,811,807	A/G	—	benign
rs5915619	X:5,811,965	T/C	—	benign
rs6639538	X:5,816,328	G/C	—	—
rs1921360	X:5,820,961	G/T	—	benign
rs7888383	X:5,820,989	G/A	—	benign
rs2031968875	X:5,821,113	C/T	—	uncertain significance
rs183715647	X:5,821,114	G/A	—	likely benign
rs896385741	X:5,821,150	G/C	—	likely benign
rs727504050	X:5,821,155	C/T	—	uncertain significance
rs144614029	X:5,821,156	G/A	—	likely benign
rs769290806	X:5,821,171	G/A	—	likely benign
rs772619986	X:5,821,174	G/A	—	likely benign
rs138545443	X:5,821,175	T/C	—	likely benign
rs1262649488	X:5,821,209	G/C	—	uncertain significance
rs767356819	X:5,821,228	G/A	—	likely benign
rs1173108724	X:5,821,233	C/T	—	uncertain significance
rs146227486	X:5,821,237	G/A	—	likely benign
rs1569118116	X:5,821,239	G/C	—	uncertain significance
rs2031978800	X:5,821,242	C/T	—	uncertain significance
rs9785605	X:5,821,243	C/T	—	conflicting classifications of pathogenicity
rs9785509	X:5,821,249	A/G	—	conflicting classifications of pathogenicity
rs748640243	X:5,821,279	C/T	—	uncertain significance
rs398124364	X:5,821,285	G/A	—	uncertain significance
rs2518444876	X:5,821,301	T/C	—	uncertain significance
rs2518445136	X:5,821,332	A/G	—	uncertain significance
rs201238432	X:5,821,333	C/T	—	likely benign
rs139142498	X:5,821,339	G/A	—	likely benign

Showing 100 of 229 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.