ALMS1

ALMS1 centrosome and basal body associated protein

Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

Known Variants4,876 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs191543152	2:73,612,834	G/C	—	likely benign
rs886056292	2:73,612,890	G/A	—	uncertain significance
rs1670500821	2:73,612,906	A/G	—	uncertain significance
rs571728800	2:73,612,919	A/G	—	uncertain significance
rs886056293	2:73,612,933	C/T	—	uncertain significance
rs868088238	2:73,612,944	C/T	—	uncertain significance
rs543687863	2:73,612,949	C/T	—	uncertain significance
rs539250179	2:73,612,952	C/G	—	likely benign
rs530120421	2:73,612,976	C/T	—	likely benign
rs935547269	2:73,612,977	G/A	—	uncertain significance
rs1553396078	2:73,612,978	C/T	—	uncertain significance
rs746944958	2:73,612,981	A/G	—	uncertain significance
rs1553396082	2:73,612,985	C/G	—	uncertain significance
rs1553396083	2:73,612,988	G/A	—	uncertain significance
rs1296403299	2:73,612,990	C/T	—	uncertain significance
rs756956183	2:73,612,996	C/T	—	uncertain significance
rs1429891881	2:73,612,997	A/G	—	uncertain significance
rs1553396091	2:73,612,998	T/G	—	conflicting classifications of pathogenicity
rs2104056063	2:73,612,999	G/A	—	likely pathogenic
rs1670504473	2:73,613,000	G/T	—	pathogenic
rs1053425100	2:73,613,003	C/T	—	uncertain significance
rs914898490	2:73,613,004	C/T	—	uncertain significance
rs570180164	2:73,613,005	C/T	—	likely benign
rs1553396092	2:73,613,006	G/T	—	likely pathogenic
rs1260367236	2:73,613,008	G/C	—	uncertain significance
rs2104056226	2:73,613,012	C/T	—	likely benign
rs373614102	2:73,613,017	A/G	—	likely benign
rs769538172	2:73,613,021	C/T	—	uncertain significance
rs1297606865	2:73,613,022	C/T	—	uncertain significance
rs1283224132	2:73,613,023	G/C	—	likely benign
rs1045405319	2:73,613,024	G/A	—	uncertain significance
rs1402244580	2:73,613,026	C/T	—	conflicting classifications of pathogenicity
rs2465969801	2:73,613,027	G/T	—	pathogenic
rs1217067369	2:73,613,029	G/A	—	likely benign
rs1574423651	2:73,613,034	A/G	—	uncertain significance
rs2465969974	2:73,613,036	G/A	—	uncertain significance
rs1451558184	2:73,613,038	G/A	—	likely benign
rs1558624512	2:73,613,041	G/A	—	likely benign
rs1174023229	2:73,613,042	G/T	—	pathogenic
rs1553396127	2:73,613,047	G/A	—	likely benign
rs1159662032	2:73,613,049	A/C	—	uncertain significance
rs1670509008	2:73,613,050	G/A	—	likely benign
rs939208094	2:73,613,051	G/A	—	uncertain significance
rs866503570	2:73,613,053	G/A	—	likely benign
rs2465970198	2:73,613,054	G/A	—	uncertain significance
rs183407241	2:73,613,056	G/A	—	likely benign
rs1438410766	2:73,613,057	G/T	—	pathogenic
rs1004961829	2:73,613,059	G/A	—	likely benign
rs1574423753	2:73,613,062	G/A	—	likely benign
rs2465970389	2:73,613,064	A/C	—	uncertain significance
rs1054040147	2:73,613,065	G/A	—	likely benign
rs1483677896	2:73,613,068	G/A	—	likely benign
rs1285425883	2:73,613,069	G/T	—	pathogenic
rs13009043	2:73,613,071	A/G	—	likely benign
rs2465970539	2:73,613,072	G/C	—	uncertain significance
rs1670512146	2:73,613,073	A/C	—	uncertain significance
rs13009604	2:73,613,074	G/A	—	likely benign
rs1670512542	2:73,613,078	G/A	—	uncertain significance
rs774968380	2:73,613,082	C/A	—	uncertain significance
rs748863552	2:73,613,083	T/C	—	likely benign
rs1420916551	2:73,613,086	A/T	—	likely benign
rs13009609	2:73,613,089	G/C	—	likely benign
rs768161233	2:73,613,090	G/A	—	uncertain significance
rs2465970698	2:73,613,092	G/A	—	likely benign
rs1574423870	2:73,613,098	G/C	—	likely benign
rs955371491	2:73,613,099	G/C	—	uncertain significance
rs2465970758	2:73,613,104	C/T	—	likely benign
rs774784126	2:73,613,105	G/C	—	conflicting classifications of pathogenicity
rs762403314	2:73,613,106	T/G	—	conflicting classifications of pathogenicity
rs1394882288	2:73,613,107	G/T	—	likely benign
rs1462829116	2:73,613,109	A/G	—	conflicting classifications of pathogenicity
rs767731236	2:73,613,110	C/T	—	likely benign
rs2104058286	2:73,613,111	G/T	—	uncertain significance
rs1334797627	2:73,613,112	A/G	—	uncertain significance
rs2104058310	2:73,613,113	C/T	—	likely benign
rs537537228	2:73,613,116	A/G	—	likely benign
rs201868751	2:73,613,117	G/C	—	conflicting classifications of pathogenicity
rs1558624684	2:73,613,118	T/C	—	uncertain significance
rs1233161159	2:73,613,119	G/C	—	likely benign
rs1294461836	2:73,613,120	G/A	—	uncertain significance
rs1337322908	2:73,613,121	T/A	—	uncertain significance
rs766762252	2:73,613,122	C/T	—	likely benign
rs753958280	2:73,613,128	G/T	—	uncertain significance
rs755038994	2:73,613,129	G/A	—	uncertain significance
rs2465970870	2:73,613,130	A/C	—	uncertain significance
rs765418565	2:73,613,131	G/T	—	uncertain significance
rs1057524276	2:73,613,132	G/A	—	uncertain significance
rs894068220	2:73,613,133	T/C	—	uncertain significance
rs1187062826	2:73,613,134	G/A	—	likely benign
rs2465970926	2:73,613,137	G/A	—	likely benign
rs751415466	2:73,613,138	G/A	—	uncertain significance
rs1670515874	2:73,613,140	A/G	—	likely benign
rs1476182899	2:73,613,141	G/A	—	uncertain significance
rs757262099	2:73,613,146	G/C	—	likely benign
rs2104058756	2:73,613,153	G/A	—	uncertain significance
rs1245177160	2:73,613,155	G/C	—	uncertain significance
rs745737550	2:73,613,156	T/G	—	uncertain significance
rs755760721	2:73,613,157	T/A	—	pathogenic
rs1313030064	2:73,613,158	G/A	—	likely benign
rs1357904820	2:73,613,159	G/A	—	uncertain significance

Showing 100 of 4,876 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.