ABCB6

ATP binding cassette subfamily B member 6 (LAN blood group)

Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

Known Variants170 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17783626	2:220,074,442	T/C	—	benign
rs375057553	2:220,074,679	G/A	—	uncertain significance
rs780047348	2:220,074,710	C/T	—	uncertain significance
rs754250687	2:220,074,724	C/A	—	uncertain significance
rs553140087	2:220,074,740	C/A	—	uncertain significance
rs387906910	2:220,074,758	G/C	missense variant	pathogenic
rs768341073	2:220,074,764	C/T	—	uncertain significance
rs73993544	2:220,074,793	T/A	—	benign
rs79441174	2:220,074,847	G/A	—	benign
rs1574808120	2:220,074,957	C/T	—	likely benign
rs1460638206	2:220,074,977	C/T	—	uncertain significance
rs113242206	2:220,074,999	A/G	—	likely benign
rs1950559890	2:220,075,013	T/A	—	uncertain significance
rs78861870	2:220,075,045	T/C	—	benign
rs201876128	2:220,075,091	G/A	—	benign
rs375028287	2:220,075,097	C/T	—	uncertain significance
rs2106420840	2:220,075,104	T/C	—	uncertain significance
rs201104967	2:220,075,116	C/T	—	conflicting classifications of pathogenicity
rs752595656	2:220,075,127	C/T	—	uncertain significance
rs201416447	2:220,075,140	C/A	—	conflicting classifications of pathogenicity
rs1190925995	2:220,075,141	T/G	—	uncertain significance
rs61733626	2:220,075,193	G/A	—	uncertain significance
rs1559234527	2:220,075,431	A/C	—	affects
rs192931087	2:220,075,473	C/T	—	uncertain significance
rs141840760	2:220,075,474	G/A	—	uncertain significance
rs746030949	2:220,075,487	G/C	—	likely benign
rs368745056	2:220,075,493	C/T	—	likely benign
rs541845688	2:220,075,504	C/T	—	conflicting classifications of pathogenicity
rs148211042	2:220,075,521	C/T	missense variant	pathogenic
rs199515171	2:220,075,522	G/A	—	uncertain significance
rs372871124	2:220,075,562	C/T	—	likely benign
rs757264353	2:220,075,736	C/T	—	uncertain significance
rs781073692	2:220,075,737	G/C	—	uncertain significance
rs1050020632	2:220,075,740	C/T	—	uncertain significance
rs139523052	2:220,075,746	G/A	—	uncertain significance
rs142421126	2:220,075,758	C/T	—	uncertain significance
rs551516578	2:220,075,770	T/A	—	uncertain significance
rs1377097612	2:220,075,799	C/G	—	uncertain significance
rs1356916555	2:220,075,802	A/G	—	uncertain significance
rs747584957	2:220,075,811	C/T	—	uncertain significance
rs140239756	2:220,075,820	G/T	—	uncertain significance
rs2544848314	2:220,075,836	G/A	—	likely benign
rs13402964	2:220,077,134	C/T	—	conflicting classifications of pathogenicity
rs376664522	2:220,077,135	G/A	stop gained	uncertain significance
rs772052388	2:220,077,169	C/G	—	likely benign
rs373316042	2:220,077,222	T/C	—	uncertain significance
rs749927798	2:220,077,225	G/A	—	likely benign
rs13027935	2:220,077,405	G/A	—	benign
rs370947094	2:220,077,722	C/G	—	likely benign
rs530259488	2:220,077,739	T/G	—	likely benign
rs200153096	2:220,077,972	T/C	—	uncertain significance
rs190137939	2:220,077,985	C/T	—	uncertain significance
rs483352876	2:220,078,002	C/T	—	not provided
rs145526996	2:220,078,006	C/T	—	conflicting classifications of pathogenicity
rs145498806	2:220,078,017	C/T	—	uncertain significance
rs397514758	2:220,078,032	C/T	missense variant	pathogenic
rs774856775	2:220,078,042	C/T	—	uncertain significance
rs1336733870	2:220,078,175	T/C	—	uncertain significance
rs201713868	2:220,078,186	A/G	—	uncertain significance
rs387906908	2:220,078,189	—	—	—
rs796065353	2:220,078,217	G/T	missense variant	pathogenic
rs2544852627	2:220,078,222	A/G	—	uncertain significance
rs879255549	2:220,078,225	C/T	—	affects
rs1290968004	2:220,078,316	A/C	—	uncertain significance
rs2544852924	2:220,078,345	T/C	—	uncertain significance
rs2544852935	2:220,078,348	A/C	—	uncertain significance
rs759620730	2:220,078,378	T/C	—	uncertain significance
rs376713235	2:220,078,395	C/T	—	likely benign
rs2139823	2:220,078,496	T/C	—	benign
rs149363094	2:220,078,564	G/C	—	likely benign
rs200689831	2:220,078,565	T/C	—	uncertain significance
rs763768429	2:220,078,615	A/G	—	conflicting classifications of pathogenicity
rs1950608414	2:220,078,618	A/G	—	uncertain significance
rs2544853494	2:220,078,624	T/G	—	uncertain significance
rs147445258	2:220,078,652	C/T	missense variant	likely benign
rs753025645	2:220,078,839	T/C	—	likely benign
rs201100181	2:220,078,841	A/T	—	likely pathogenic
rs749179479	2:220,078,865	C/T	—	uncertain significance
rs771594650	2:220,078,876	C/T	—	likely benign
rs141029409	2:220,078,882	G/A	—	likely benign
rs111677240	2:220,078,890	C/G	—	uncertain significance
rs144749234	2:220,078,891	G/A	—	likely benign
rs777270402	2:220,078,893	C/A	—	uncertain significance
rs1351619325	2:220,078,898	T/C	—	uncertain significance
rs73077018	2:220,079,096	C/T	—	benign
rs200074767	2:220,079,112	G/A	—	uncertain significance
rs61733629	2:220,079,136	A/G	—	conflicting classifications of pathogenicity
rs775873530	2:220,079,142	C/T	—	uncertain significance
rs764611865	2:220,079,148	C/T	—	uncertain significance
rs767885705	2:220,079,155	C/T	—	uncertain significance
rs756165401	2:220,079,166	G/A	—	uncertain significance
rs766418504	2:220,079,173	T/C	—	uncertain significance
rs758314006	2:220,079,178	C/T	—	uncertain significance
rs746772305	2:220,079,182	G/A	—	uncertain significance
rs1246658714	2:220,079,199	T/G	—	uncertain significance
rs369817411	2:220,079,234	G/C	—	benign
rs750110093	2:220,079,676	C/T	—	likely benign
rs111852229	2:220,079,686	G/C	—	likely benign
rs1178059943	2:220,079,692	G/A	—	uncertain significance
rs1477773416	2:220,079,771	G/A	—	likely benign

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.