AP4B1

adaptor related protein complex 4 subunit beta 1

Summary

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Known Variants349 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12076115	1:114,437,386	A/G	—	likely benign
rs372937961	1:114,437,696	T/C	—	uncertain significance
rs79050956	1:114,437,707	T/C	—	likely benign
rs2526476562	1:114,437,728	A/G	—	likely benign
rs1558076040	1:114,437,742	C/G	—	uncertain significance
rs777639673	1:114,437,745	T/C	—	uncertain significance
rs564093511	1:114,437,751	G/A	—	uncertain significance
rs145170032	1:114,437,756	C/T	—	likely benign
rs199879996	1:114,437,757	G/A	—	uncertain significance
rs969793953	1:114,437,762	T/A	—	likely benign
rs2526477815	1:114,437,776	T/G	—	uncertain significance
rs768308955	1:114,437,808	T/A	—	uncertain significance
rs746528441	1:114,437,813	T/C	—	likely benign
rs137886060	1:114,437,824	T/G	—	uncertain significance
rs1553256829	1:114,437,825	T/A	—	uncertain significance
rs747918027	1:114,437,828	G/T	—	uncertain significance
rs768141876	1:114,437,841	G/A	—	uncertain significance
rs2526480024	1:114,437,867	T/C	—	likely benign
rs797045243	1:114,437,872	A/C	—	uncertain significance
rs752940030	1:114,437,877	C/T	—	uncertain significance
rs769479430	1:114,437,887	C/A	—	uncertain significance
rs1558076799	1:114,437,894	C/T	—	uncertain significance
rs1362886937	1:114,437,896	T/C	—	uncertain significance
rs146869083	1:114,437,900	G/A	—	likely benign
rs143354033	1:114,437,903	G/A	—	likely benign
rs1667326839	1:114,437,926	G/T	—	uncertain significance
rs1667327766	1:114,437,945	A/G	—	likely benign
rs2526481945	1:114,437,956	C/T	—	uncertain significance
rs777210567	1:114,437,962	G/A	—	uncertain significance
rs368070166	1:114,437,968	G/C	—	uncertain significance
rs1667330271	1:114,437,976	T/C	—	uncertain significance
rs775882326	1:114,437,977	G/C	—	uncertain significance
rs1480000484	1:114,437,981	A/G	—	likely benign
rs1667332064	1:114,437,985	G/A	—	uncertain significance
rs1168331342	1:114,437,988	A/C	—	uncertain significance
rs2526482684	1:114,437,989	C/A	—	uncertain significance
rs530459127	1:114,438,006	G/C	—	uncertain significance
rs1202446548	1:114,438,008	T/C	—	likely benign
rs186623784	1:114,438,013	C/G	—	uncertain significance
rs750402059	1:114,438,036	C/T	—	likely benign
rs368828060	1:114,438,037	G/C	—	uncertain significance
rs201876159	1:114,438,039	T/C	—	uncertain significance
rs767679115	1:114,438,042	G/A	—	uncertain significance
rs1325397455	1:114,438,044	G/C	—	likely benign
rs569988158	1:114,438,048	A/G	—	uncertain significance
rs148748734	1:114,438,064	A/C	—	uncertain significance
rs549517422	1:114,438,068	A/C	—	likely benign
rs2526485089	1:114,438,084	C/T	—	uncertain significance
rs2526485151	1:114,438,086	C/T	—	likely benign
rs1166699876	1:114,438,088	C/G	—	uncertain significance
rs2100992189	1:114,438,115	C/T	—	likely pathogenic
rs17031980	1:114,438,123	G/C	—	benign
rs111830978	1:114,438,294	T/C	—	likely benign
rs2526490250	1:114,438,368	A/G	—	likely benign
rs1667387503	1:114,438,371	G/A	—	likely benign
rs190617142	1:114,438,385	C/T	—	uncertain significance
rs530540257	1:114,438,423	C/T	—	conflicting classifications of pathogenicity
rs952402725	1:114,438,424	G/A	—	uncertain significance
rs779319072	1:114,438,427	C/T	—	uncertain significance
rs762174414	1:114,438,432	C/A	—	uncertain significance
rs34778731	1:114,438,446	G/A	—	likely benign
rs955613523	1:114,438,447	A/C	—	uncertain significance
rs114734921	1:114,438,448	T/C	—	likely benign
rs911365743	1:114,438,451	T/G	—	uncertain significance
rs1481692973	1:114,438,463	C/T	—	uncertain significance
rs759495705	1:114,438,468	C/T	—	uncertain significance
rs373733045	1:114,438,474	A/G	—	uncertain significance
rs2100994599	1:114,438,475	C/G	—	uncertain significance
rs752469657	1:114,438,484	G/A	—	likely benign
rs762667637	1:114,438,485	T/C	—	likely benign
rs751240646	1:114,438,488	G/A	—	likely benign
rs780654750	1:114,438,492	A/C	—	uncertain significance
rs2100994814	1:114,438,511	T/A	—	uncertain significance
rs376974229	1:114,438,527	C/T	—	likely benign
rs149723440	1:114,438,528	G/A	—	uncertain significance
rs866175993	1:114,438,529	G/T	—	uncertain significance
rs1667407743	1:114,438,537	A/G	—	uncertain significance
rs2100995025	1:114,438,538	A/G	—	likely benign
rs1323439008	1:114,438,541	G/A	—	uncertain significance
rs939158623	1:114,438,547	G/A	—	uncertain significance
rs1558079074	1:114,438,563	A/T	—	likely benign
rs2100995308	1:114,438,575	A/G	—	likely benign
rs745939325	1:114,438,580	G/A	—	uncertain significance
rs769713892	1:114,438,583	T/C	—	uncertain significance
rs1667413226	1:114,438,586	C/T	—	uncertain significance
rs1292811669	1:114,438,595	T/C	—	uncertain significance
rs2526495275	1:114,438,600	A/G	—	conflicting classifications of pathogenicity
rs762767272	1:114,438,611	G/A	—	uncertain significance
rs763842373	1:114,438,612	C/T	—	uncertain significance
rs200276550	1:114,438,613	G/A	—	conflicting classifications of pathogenicity
rs529495094	1:114,438,614	A/T	—	pathogenic
rs1265334140	1:114,438,618	T/C	—	uncertain significance
rs767220480	1:114,438,631	G/A	—	pathogenic
rs754458814	1:114,438,636	C/T	—	uncertain significance
rs1043676103	1:114,438,645	A/G	—	uncertain significance
rs1553257180	1:114,438,659	C/T	—	likely benign
rs759015795	1:114,438,666	G/C	—	uncertain significance
rs1318371475	1:114,438,679	T/C	—	likely benign
rs765775702	1:114,438,868	T/C	—	likely benign
rs1446788358	1:114,438,871	A/G	—	likely benign

Showing 100 of 349 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.