LMBRD1

LMBR1 domain containing 1

Summary

This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]

Known Variants412 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs80330045	6:70,385,655	A/G	—	benign
rs536469891	6:70,385,666	T/G	—	uncertain significance
rs9185	6:70,385,709	G/A	—	benign
rs1765534415	6:70,385,830	C/A	—	uncertain significance
rs960902863	6:70,385,884	T/C	—	uncertain significance
rs886061689	6:70,385,925	T/C	—	uncertain significance
rs886061690	6:70,385,973	C/A	—	uncertain significance
rs758279877	6:70,386,024	T/C	—	uncertain significance
rs1164499549	6:70,386,059	A/G	—	likely benign
rs982934588	6:70,386,060	T/C	—	uncertain significance
rs534280770	6:70,386,062	G/C	—	conflicting classifications of pathogenicity
rs771408766	6:70,386,068	G/C	—	likely benign
rs2482153795	6:70,386,074	A/G	—	likely benign
rs761378514	6:70,386,096	T/C	—	uncertain significance
rs764884534	6:70,386,101	T/C	—	likely benign
rs944285630	6:70,386,116	C/T	—	likely benign
rs373481039	6:70,386,117	G/A	—	uncertain significance
rs754860778	6:70,386,135	C/T	—	uncertain significance
rs780994208	6:70,386,142	C/T	—	likely benign
rs1765542313	6:70,386,143	A/G	—	likely benign
rs2482154076	6:70,386,149	T/A	—	likely benign
rs980145400	6:70,386,163	C/A	—	uncertain significance
rs749367951	6:70,386,167	T/C	—	likely benign
rs928713653	6:70,386,172	T/G	—	likely benign
rs2482154188	6:70,386,174	A/G	—	likely benign
rs1765543569	6:70,386,179	A/C	—	likely benign
rs149064101	6:70,386,180	G/A	—	likely benign
rs1484305691	6:70,386,182	C/T	—	likely benign
rs3214020	6:70,386,247	A/G	—	benign
rs3214021	6:70,386,320	C/T	—	likely benign
rs116095397	6:70,386,322	C/T	—	likely benign
rs200824654	6:70,386,323	G/A	—	likely benign
rs2482154749	6:70,386,324	T/C	—	likely benign
rs749551154	6:70,386,327	G/A	—	likely benign
rs1485623826	6:70,386,329	T/C	—	likely benign
rs2149832420	6:70,386,330	A/G	—	likely benign
rs1330892372	6:70,386,335	C/T	—	likely benign
rs2482154831	6:70,386,348	A/G	—	likely benign
rs776133587	6:70,386,350	A/G	—	uncertain significance
rs1765548296	6:70,386,351	G/A	—	likely benign
rs2482154922	6:70,386,373	G/T	—	uncertain significance
rs2482154933	6:70,386,378	A/G	—	likely benign
rs1179148918	6:70,386,381	G/A	—	likely benign
rs561314652	6:70,386,408	G/T	—	pathogenic
rs2482155030	6:70,386,409	T/C	—	uncertain significance
rs138023744	6:70,386,413	T/C	—	uncertain significance
rs767484364	6:70,386,415	C/T	—	uncertain significance
rs765553354	6:70,386,416	G/A	—	uncertain significance
rs1389466957	6:70,386,417	G/C	—	likely benign
rs550289200	6:70,386,447	T/C	—	likely benign
rs753105951	6:70,386,449	A/G	—	likely benign
rs758519179	6:70,386,453	A/T	—	likely benign
rs3816563	6:70,386,653	A/G	—	benign
rs77900614	6:70,407,316	A/T	—	benign
rs2482212363	6:70,407,443	A/G	—	likely benign
rs763882735	6:70,407,446	T/C	—	likely benign
rs761693513	6:70,407,462	A/C	—	likely benign
rs12648	6:70,407,465	A/T	—	benign
rs1382933312	6:70,407,468	T/A	—	likely benign
rs1398263450	6:70,407,469	G/A	—	uncertain significance
rs751525924	6:70,407,483	T/C	—	likely benign
rs2482212715	6:70,407,489	A/T	—	likely benign
rs781535724	6:70,407,490	G/C	—	uncertain significance
rs1202049874	6:70,407,502	T/C	—	uncertain significance
rs2482212811	6:70,407,504	G/T	—	likely benign
rs745552519	6:70,407,519	A/G	—	likely benign
rs771561971	6:70,407,525	T/C	—	uncertain significance
rs1340799992	6:70,407,526	A/G	—	uncertain significance
rs375328924	6:70,407,529	T/G	—	uncertain significance
rs2482213008	6:70,407,531	A/C	—	likely benign
rs768709895	6:70,407,534	C/A	—	pathogenic
rs2482213062	6:70,407,541	A/G	—	likely benign
rs931474283	6:70,407,545	A/C	—	likely benign
rs765143100	6:70,407,551	A/T	—	likely benign
rs2445967	6:70,407,757	T/C	—	benign
rs141206548	6:70,408,871	T/C	—	likely benign
rs147270670	6:70,408,933	A/G	—	conflicting classifications of pathogenicity
rs2482216432	6:70,408,934	C/G	—	likely pathogenic
rs2149843427	6:70,408,942	A/G	—	uncertain significance
rs773154173	6:70,408,952	G/A	—	pathogenic
rs2482216534	6:70,408,956	T/A	—	likely benign
rs1489571655	6:70,408,971	T/C	—	likely benign
rs2482216643	6:70,408,974	G/C	—	likely benign
rs766688327	6:70,408,987	T/C	—	uncertain significance
rs902237667	6:70,408,989	A/T	—	likely benign
rs2149843476	6:70,409,025	T/A	—	likely benign
rs2482216888	6:70,409,034	G/A	—	likely benign
rs1766072200	6:70,409,049	T/C	—	likely benign
rs1364347331	6:70,409,056	C/T	—	uncertain significance
rs1402550503	6:70,409,058	G/C	—	likely benign
rs561265847	6:70,409,059	G/C	—	uncertain significance
rs779802824	6:70,409,067	T/C	—	likely benign
rs147447600	6:70,409,074	A/G	—	uncertain significance
rs185334169	6:70,409,081	A/G	—	likely benign
rs773277511	6:70,409,082	T/C	—	likely benign
rs2149843526	6:70,409,085	C/T	—	likely pathogenic
rs199650812	6:70,409,088	G/A	—	likely benign
rs770654585	6:70,409,092	G/T	—	likely benign
rs2482217158	6:70,409,096	A/C	—	likely benign
rs1416345665	6:70,409,097	G/A	—	likely benign

Showing 100 of 412 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.