LHB

luteinizing hormone subunit beta

Summary

This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]

Known Variants66 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs749776	19:49,519,058	T/C	—	benign
rs2013039	19:49,519,230	G/T	—	benign
rs2013040	19:49,519,240	G/A	—	benign
rs150244609	19:49,519,336	G/A	—	benign
rs867597840	19:49,519,378	C/T	—	uncertain significance
rs5030774	19:49,519,387	C/T	missense variant	uncertain significance
rs138913384	19:49,519,412	G/A	—	likely benign
rs777561425	19:49,519,425	C/T	—	likely benign
rs775305237	19:49,519,456	C/T	—	likely benign
rs149003040	19:49,519,465	C/T	—	uncertain significance
rs1056917	19:49,519,466	A/G	synonymous variant	benign
rs532920492	19:49,519,473	G/C	—	uncertain significance
rs146251380	19:49,519,489	G/A	—	likely benign
rs761300947	19:49,519,505	C/T	—	likely benign
rs147247585	19:49,519,511	A/G	—	benign
rs116437960	19:49,519,518	G/T	—	likely benign
rs115897316	19:49,519,520	G/A	—	benign
rs5030773	19:49,519,530	T/C	missense variant	pathogenic
rs552986333	19:49,519,540	G/C	—	uncertain significance
rs150768493	19:49,519,541	C/T	—	likely benign
rs73942398	19:49,519,551	G/C	—	benign
rs149516688	19:49,519,562	G/C	—	benign
rs370785744	19:49,519,577	G/A	—	likely benign
rs201811537	19:49,519,606	A/G	—	likely benign
rs1466393061	19:49,519,649	C/T	—	likely benign
rs1288211067	19:49,519,650	T/C	—	likely benign
rs1359852038	19:49,519,651	G/A	—	likely benign
rs2387588	19:49,519,793	A/G	—	benign
rs786204822	19:49,519,803	C/G	—	pathogenic
rs759224828	19:49,519,804	C/A	—	uncertain significance
rs139977671	19:49,519,812	G/C	—	uncertain significance
rs371722800	19:49,519,818	A/G	—	uncertain significance
rs121912517	19:49,519,820	C/T	missense variant	pathogenic
rs746249328	19:49,519,854	C/T	—	uncertain significance
rs1056914	19:49,519,855	T/G	—	benign
rs6521	19:49,519,873	G/C	synonymous variant	benign
rs34349826	19:49,519,883	A/G	missense variant	benign
rs35270001	19:49,519,898	T/C	—	uncertain significance
rs1800447	19:49,519,905	A/G	missense variant	benign
rs374140759	19:49,519,906	T/A	—	likely benign
rs142640810	19:49,519,916	G/A	—	uncertain significance
rs5030775	19:49,519,935	C/T	—	benign
rs34247911	19:49,519,942	T/C	—	likely benign
rs374236524	19:49,519,948	C/T	—	likely benign
rs4002462	19:49,519,997	A/G	—	benign
rs568998004	19:49,520,037	C/T	—	likely benign
rs147534521	19:49,520,040	G/A	—	likely benign
rs772021030	19:49,520,075	C/G	—	likely benign
rs3956233	19:49,520,076	C/T	—	benign
rs145528322	19:49,520,093	G/T	—	likely benign
rs144948359	19:49,520,214	T/C	—	benign
rs201674286	19:49,520,217	C/T	—	benign
rs144626738	19:49,520,252	G/T	—	likely benign
rs2387589	19:49,520,315	T/C	—	benign
rs143723476	19:49,520,329	G/A	—	uncertain significance
rs3752210	19:49,520,372	A/T	—	benign
rs114717203	19:49,520,481	C/T	—	likely benign
rs1960072	19:49,520,502	C/T	—	benign
rs2387590	19:49,520,576	C/T	—	benign
rs3752213	19:49,520,606	C/G	—	benign
rs3752214	19:49,520,612	G/A	—	benign
rs113572723	19:49,520,614	C/T	—	benign
rs3795046	19:49,520,827	G/T	regulatory region variant	—
rs3795047	19:49,520,828	A/C	—	—
rs3795050	19:49,520,863	A/T	—	—
rs3795052	19:49,521,014	A/C	regulatory region variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.