LMX1B

LIM homeobox transcription factor 1 beta

Summary

This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Known Variants481 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs563572406	9:129,376,717	G/T	—	uncertain significance
rs767281663	9:129,376,747	C/G	—	likely benign
rs750263789	9:129,376,748	C/G	—	uncertain significance
rs756001518	9:129,376,750	G/A	—	uncertain significance
rs1564143314	9:129,376,764	G/T	—	uncertain significance
rs1424824259	9:129,376,770	C/T	—	likely benign
rs1245206525	9:129,376,779	G/A	—	likely benign
rs376265443	9:129,376,785	G/A	—	conflicting classifications of pathogenicity
rs758741262	9:129,376,786	G/A	—	uncertain significance
rs778251500	9:129,376,788	C/T	—	likely benign
rs747468994	9:129,376,792	G/A	—	uncertain significance
rs781727698	9:129,376,810	A/G	—	uncertain significance
rs748676035	9:129,376,822	G/A	—	uncertain significance
rs1835262985	9:129,376,827	C/T	—	likely benign
rs768237865	9:129,376,831	C/T	—	likely benign
rs1012810702	9:129,376,837	C/T	—	uncertain significance
rs771784052	9:129,376,843	C/T	—	uncertain significance
rs1017526258	9:129,376,858	G/A	—	uncertain significance
rs1114167421	9:129,376,872	G/C	—	uncertain significance
rs371424668	9:129,376,886	C/T	—	likely benign
rs2235055	9:129,377,076	T/C	—	benign
rs75894916	9:129,377,162	G/A	—	benign
rs2235057	9:129,377,396	A/G	—	benign
rs1427742912	9:129,377,647	C/A	—	likely benign
rs772314163	9:129,377,648	C/T	—	likely benign
rs776337890	9:129,377,649	C/T	—	likely benign
rs2490517371	9:129,377,650	T/G	—	likely benign
rs2490517412	9:129,377,657	T/C	—	likely benign
rs368126014	9:129,377,658	A/G	—	likely benign
rs1308751738	9:129,377,659	C/G	—	likely pathogenic
rs2490517427	9:129,377,661	G/A	—	pathogenic
rs765331530	9:129,377,662	G/C	—	uncertain significance
rs1228632022	9:129,377,679	C/G	—	uncertain significance
rs751836316	9:129,377,684	C/T	—	likely benign
rs1588257904	9:129,377,691	G/T	—	pathogenic
rs2490517671	9:129,377,697	T/C	—	pathogenic
rs1554721879	9:129,377,698	G/T	—	pathogenic
rs2118823223	9:129,377,700	C/T	—	pathogenic
rs781592042	9:129,377,702	G/A	—	likely benign
rs2118823251	9:129,377,704	G/C	—	uncertain significance
rs371293980	9:129,377,706	C/T	—	uncertain significance
rs757937784	9:129,377,708	C/T	—	likely benign
rs746649113	9:129,377,714	C/G	—	likely benign
rs1377719545	9:129,377,715	G/T	—	uncertain significance
rs2118823374	9:129,377,730	C/T	—	pathogenic
rs2490517957	9:129,377,731	G/A	—	uncertain significance
rs999732757	9:129,377,739	G/T	—	pathogenic
rs1835285052	9:129,377,743	C/A	—	pathogenic
rs2235058	9:129,377,746	C/G	—	uncertain significance
rs1057520783	9:129,377,748	T/G	missense variant	pathogenic
rs886039574	9:129,377,749	G/A	stop gained	pathogenic
rs1423332912	9:129,377,753	C/T	—	likely benign
rs1835285480	9:129,377,754	G/T	—	pathogenic
rs745711468	9:129,377,757	G/T	—	pathogenic
rs2118823518	9:129,377,759	G/T	—	uncertain significance
rs2118823527	9:129,377,760	T/C	—	uncertain significance
rs1835285672	9:129,377,764	T/G	—	pathogenic
rs121909489	9:129,377,766	C/T	stop gained	pathogenic
rs2490518154	9:129,377,769	T/C	—	uncertain significance
rs2490518161	9:129,377,771	C/G	—	pathogenic
rs1289892661	9:129,377,775	G/A	—	uncertain significance
rs763085114	9:129,377,777	G/A	—	likely benign
rs2490518250	9:129,377,778	T/A	—	likely pathogenic
rs1554721897	9:129,377,779	G/A	—	likely pathogenic
rs1835286357	9:129,377,780	T/A	—	pathogenic
rs2490518285	9:129,377,781	C/T	—	pathogenic
rs2490518320	9:129,377,784	C/T	—	pathogenic
rs2490518330	9:129,377,788	C/T	—	uncertain significance
rs2490518346	9:129,377,789	C/A	—	likely benign
rs1835286451	9:129,377,795	C/T	—	likely benign
rs2118823701	9:129,377,807	C/G	—	pathogenic
rs1057520178	9:129,377,807	—	—	pathogenic
rs141391682	9:129,377,817	C/A	—	likely benign
rs1564143881	9:129,377,827	A/G	—	likely pathogenic
rs864621969	9:129,377,828	C/G	stop gained	pathogenic
rs1183674062	9:129,377,833	A/G	—	uncertain significance
rs2490518599	9:129,377,839	A/C	—	likely pathogenic
rs1414573440	9:129,377,841	T/G	—	uncertain significance
rs1835287345	9:129,377,843	C/G	—	pathogenic
rs1835287406	9:129,377,847	C/T	—	pathogenic
rs1835287461	9:129,377,849	G/C	—	pathogenic
rs1336980	9:129,377,855	G/C	—	benign
rs372216363	9:129,377,862	G/A	—	likely benign
rs540218702	9:129,377,864	C/T	—	likely benign
rs945686	9:129,378,026	G/C	regulatory region variant	benign
rs3829849	9:129,390,800	C/T	intron variant	—
rs10987375	9:129,392,365	C/G	—	—
rs7859156	9:129,400,028	T/G	—	—
rs12342373	9:129,402,567	G/A	upstream gene variant	—
rs3814120	9:129,414,929	G/A	intron variant	—
rs7854658	9:129,414,938	G/A	intron variant	—
rs10987386	9:129,416,317	C/T	intron variant	—
rs56410689	9:129,418,448	A/G	intron variant	—
rs3861871	9:129,424,719	G/A	—	benign
rs56663592	9:129,452,777	A/G	—	benign
rs10116233	9:129,452,797	A/G	—	benign
rs113530471	9:129,452,832	T/A	—	benign
rs112719988	9:129,452,842	G/A	—	benign
rs372620265	9:129,453,098	G/A	—	likely benign
rs755470456	9:129,453,102	T/C	—	likely benign

Showing 100 of 481 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.