LMBR1

limb development membrane protein 1

Summary

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

Known Variants253 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116521088	7:156,473,565	A/C	—	benign
rs866814626	7:156,473,585	T/C	—	uncertain significance
rs886062110	7:156,473,592	T/G	—	uncertain significance
rs777769323	7:156,473,824	C/A	—	uncertain significance
rs148658727	7:156,473,846	C/G	—	benign
rs574914124	7:156,473,867	A/T	—	benign
rs748449219	7:156,473,873	T/A	—	uncertain significance
rs550075183	7:156,473,952	C/T	—	benign
rs746253016	7:156,473,974	G/A	—	uncertain significance
rs886062111	7:156,473,999	C/A	—	uncertain significance
rs756411300	7:156,474,001	C/T	—	uncertain significance
rs182572414	7:156,474,011	C/T	—	benign
rs886062112	7:156,474,028	C/A	—	uncertain significance
rs775444879	7:156,474,066	T/C	—	uncertain significance
rs187134101	7:156,474,105	T/A	—	benign
rs1205792107	7:156,474,114	A/G	—	uncertain significance
rs114295738	7:156,474,163	G/A	—	benign
rs1014236	7:156,474,169	T/C	—	benign
rs550168152	7:156,474,176	T/C	—	benign
rs772161675	7:156,474,253	A/T	—	uncertain significance
rs566692462	7:156,474,272	T/C	—	uncertain significance
rs191993720	7:156,474,283	A/G	—	benign
rs151167124	7:156,474,295	C/T	—	uncertain significance
rs1805049784	7:156,474,314	T/C	—	uncertain significance
rs1351176342	7:156,474,321	G/T	—	uncertain significance
rs367713862	7:156,474,475	G/A	—	benign
rs911647400	7:156,474,510	C/T	—	uncertain significance
rs116037533	7:156,474,574	G/C	—	benign
rs1273499025	7:156,474,625	A/G	—	uncertain significance
rs17837686	7:156,474,683	T/C	—	benign
rs185766032	7:156,474,684	G/A	—	uncertain significance
rs113867033	7:156,474,691	C/T	—	benign
rs970281844	7:156,474,692	G/A	—	uncertain significance
rs560208746	7:156,474,706	C/G	—	benign
rs146931391	7:156,474,707	T/C	—	benign
rs567467797	7:156,474,752	A/G	—	uncertain significance
rs529448700	7:156,474,756	G/A	—	uncertain significance
rs12530942	7:156,474,801	T/A	—	benign
rs75582340	7:156,474,850	T/C	—	benign
rs115581794	7:156,474,867	G/C	—	benign
rs886062113	7:156,474,910	A/T	—	uncertain significance
rs1012360796	7:156,474,931	A/T	—	uncertain significance
rs113036233	7:156,474,975	C/G	—	benign
rs749633714	7:156,475,164	G/A	—	uncertain significance
rs1307260930	7:156,475,212	A/T	—	uncertain significance
rs886062114	7:156,475,238	T/C	—	uncertain significance
rs549976103	7:156,475,302	C/T	—	benign
rs184156281	7:156,475,303	G/A	—	benign
rs17837687	7:156,475,328	A/C	—	benign
rs1032886313	7:156,475,409	C/A	—	uncertain significance
rs565001458	7:156,475,413	C/T	—	benign
rs150263103	7:156,475,414	G/A	—	uncertain significance
rs568810522	7:156,475,415	T/C	—	benign
rs1805281351	7:156,475,425	T/C	—	uncertain significance
rs1053214	7:156,475,447	G/A	—	benign
rs1180240267	7:156,475,513	G/A	—	uncertain significance
rs1163939803	7:156,475,600	G/A	—	uncertain significance
rs560435795	7:156,475,622	T/C	—	uncertain significance
rs138905233	7:156,475,711	T/C	—	benign
rs182736380	7:156,475,856	G/T	—	uncertain significance
rs886062116	7:156,476,044	C/T	—	uncertain significance
rs11982416	7:156,476,050	C/G	—	benign
rs149399222	7:156,476,087	C/T	—	benign
rs886062117	7:156,476,122	T/C	—	uncertain significance
rs886062118	7:156,476,315	G/C	—	uncertain significance
rs3487	7:156,476,389	G/A	—	benign
rs771023322	7:156,476,467	C/T	—	uncertain significance
rs115465818	7:156,476,469	A/G	—	benign
rs745661512	7:156,476,526	C/T	—	uncertain significance
rs1036026971	7:156,476,527	G/A	—	uncertain significance
rs886062119	7:156,476,606	C/A	—	uncertain significance
rs111554843	7:156,476,672	A/C	—	benign
rs75853117	7:156,476,681	G/A	—	benign
rs3735186	7:156,476,683	T/A	—	benign
rs79881605	7:156,476,736	G/A	—	benign
rs78838110	7:156,476,757	C/T	—	benign
rs375283454	7:156,476,761	G/A	—	benign
rs867219160	7:156,476,830	G/A	—	uncertain significance
rs369873566	7:156,476,837	G/A	—	conflicting classifications of pathogenicity
rs140722848	7:156,476,846	G/C	—	conflicting classifications of pathogenicity
rs1444445309	7:156,476,855	G/A	—	uncertain significance
rs10234525	7:156,477,064	G/A	—	benign
rs3757433	7:156,480,633	G/A	—	benign
rs764846509	7:156,480,813	G/A	—	uncertain significance
rs369235778	7:156,480,818	T/C	—	likely benign
rs780494539	7:156,480,849	C/G	—	uncertain significance
rs376730383	7:156,480,878	A/G	—	likely benign
rs56137174	7:156,481,136	C/T	—	benign
rs116916321	7:156,481,146	C/T	—	likely benign
rs7810000	7:156,481,183	A/T	—	benign
rs3778925	7:156,516,553	T/C	—	benign
rs369446617	7:156,516,875	G/A	—	benign
rs374148479	7:156,516,876	T/A	—	likely benign
rs761073334	7:156,516,887	G/A	—	likely benign
rs7793618	7:156,516,951	T/G	—	benign
rs10949601	7:156,516,956	T/C	—	benign
rs2072468	7:156,518,007	C/T	—	benign
rs886062120	7:156,518,176	A/C	—	uncertain significance
rs60299355	7:156,518,192	G/A	—	benign
rs59912051	7:156,518,195	A/G	—	benign

Showing 100 of 253 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.