SETD5

SET domain containing 5

Summary

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

Known Variants830 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs62246276	3:9,445,173	G/T	upstream gene variant	—
rs7615424	3:9,458,710	A/T	intron variant	—
rs2039635429	3:9,470,619	C/T	—	uncertain significance
rs1329991818	3:9,470,621	T/C	—	uncertain significance
rs2472287827	3:9,470,630	T/C	—	uncertain significance
rs1210687040	3:9,470,632	G/T	—	uncertain significance
rs567415895	3:9,470,635	A/G	—	conflicting classifications of pathogenicity
rs377000906	3:9,470,636	T/A	—	likely benign
rs2472288060	3:9,470,641	C/G	—	uncertain significance
rs2472288134	3:9,470,647	G/T	—	uncertain significance
rs2039637478	3:9,470,653	A/G	—	uncertain significance
rs201510004	3:9,470,657	C/T	—	conflicting classifications of pathogenicity
rs1394101476	3:9,470,673	A/G	—	uncertain significance
rs2125044858	3:9,470,689	T/G	—	uncertain significance
rs2125044919	3:9,470,696	A/G	—	uncertain significance
rs780643354	3:9,470,712	G/A	—	likely benign
rs370401807	3:9,475,516	C/T	—	likely benign
rs777731568	3:9,475,517	G/A	—	likely benign
rs916590771	3:9,475,520	T/C	—	likely benign
rs2040256204	3:9,475,530	C/G	—	uncertain significance
rs2472415563	3:9,475,544	G/A	—	likely benign
rs775518851	3:9,475,570	G/A	—	uncertain significance
rs1575376916	3:9,475,573	T/G	—	uncertain significance
rs548352059	3:9,475,580	C/A	—	likely benign
rs765631607	3:9,475,585	A/G	—	likely benign
rs2125091348	3:9,475,598	C/T	—	likely benign
rs763496394	3:9,475,607	G/C	—	uncertain significance
rs2472417244	3:9,475,613	G/A	—	likely benign
rs763773124	3:9,475,618	G/A	—	conflicting classifications of pathogenicity
rs1250014782	3:9,475,630	A/G	—	uncertain significance
rs2040265772	3:9,475,631	T/A	—	pathogenic
rs778743675	3:9,475,645	A/G	—	likely benign
rs779904046	3:9,475,904	T/C	—	likely benign
rs2125095922	3:9,476,015	C/G	—	uncertain significance
rs374396895	3:9,476,020	G/A	—	likely benign
rs900251006	3:9,476,029	T/C	—	likely benign
rs995856475	3:9,476,030	C/T	—	uncertain significance
rs368353953	3:9,476,031	G/C	—	likely benign
rs200031380	3:9,476,039	C/T	—	likely benign
rs371515878	3:9,476,053	G/A	—	likely benign
rs754881237	3:9,476,055	C/T	—	uncertain significance
rs756294219	3:9,476,060	G/A	—	conflicting classifications of pathogenicity
rs778124040	3:9,476,069	C/A	—	uncertain significance
rs41387348	3:9,476,070	G/A	—	benign
rs771467194	3:9,476,075	G/A	—	uncertain significance
rs2125096547	3:9,476,082	G/A	—	uncertain significance
rs746405582	3:9,476,085	C/T	—	uncertain significance
rs772584176	3:9,476,086	G/A	—	benign
rs2040326997	3:9,476,091	C/A	—	uncertain significance
rs1289716190	3:9,476,097	G/A	—	uncertain significance
rs2472433365	3:9,476,102	A/G	—	uncertain significance
rs371529347	3:9,476,103	C/A	—	uncertain significance
rs1174695466	3:9,476,105	G/A	—	uncertain significance
rs2040329124	3:9,476,110	T/A	—	likely benign
rs2125096921	3:9,476,118	G/A	—	uncertain significance
rs1393218078	3:9,476,133	C/G	—	uncertain significance
rs376494447	3:9,476,152	C/T	—	likely benign
rs752571386	3:9,476,156	T/C	—	uncertain significance
rs572286559	3:9,476,167	C/T	—	conflicting classifications of pathogenicity
rs754152706	3:9,476,168	A/G	—	uncertain significance
rs1553617359	3:9,476,174	G/A	—	uncertain significance
rs779440174	3:9,476,180	G/T	—	likely benign
rs2472436228	3:9,476,183	C/T	—	likely benign
rs1448139711	3:9,476,502	C/T	—	conflicting classifications of pathogenicity
rs775547620	3:9,476,505	T/C	—	uncertain significance
rs2040365808	3:9,476,521	G/C	—	uncertain significance
rs1430559081	3:9,476,523	G/A	—	likely benign
rs2040366549	3:9,476,524	A/C	—	uncertain significance
rs2125100487	3:9,476,536	C/T	—	uncertain significance
rs753918709	3:9,476,543	G/A	—	likely benign
rs2472449517	3:9,476,544	G/A	—	likely benign
rs780263494	3:9,476,560	A/G	—	conflicting classifications of pathogenicity
rs373958415	3:9,476,573	G/A	—	likely benign
rs760682771	3:9,477,392	A/G	—	likely benign
rs1490730714	3:9,477,412	G/A	—	uncertain significance
rs765394937	3:9,477,413	T/C	—	likely benign
rs1177788556	3:9,477,415	G/A	—	uncertain significance
rs969200498	3:9,477,437	C/T	—	likely benign
rs2125111006	3:9,477,438	T/G	—	uncertain significance
rs1402324169	3:9,477,440	G/T	—	likely benign
rs750724220	3:9,477,449	G/T	—	uncertain significance
rs2472490071	3:9,477,456	C/T	—	uncertain significance
rs767581317	3:9,477,479	A/C	—	likely benign
rs1279586734	3:9,477,509	A/G	—	likely benign
rs766800707	3:9,477,515	T/C	—	likely benign
rs370585538	3:9,477,527	A/C	—	conflicting classifications of pathogenicity
rs1349032508	3:9,477,538	G/A	—	conflicting classifications of pathogenicity
rs375122657	3:9,477,544	A/G	—	conflicting classifications of pathogenicity
rs781711203	3:9,477,549	C/G	—	likely benign
rs2472493021	3:9,477,558	G/T	—	uncertain significance
rs753185558	3:9,477,561	C/T	—	uncertain significance
rs756805346	3:9,477,562	G/A	—	likely benign
rs568483869	3:9,477,564	G/A	—	likely benign
rs1458906635	3:9,477,565	C/T	—	uncertain significance
rs1471141437	3:9,477,566	A/G	—	likely benign
rs2472493517	3:9,477,568	C/T	—	uncertain significance
rs2472493650	3:9,477,573	A/G	—	uncertain significance
rs746717574	3:9,477,586	T/C	—	uncertain significance
rs2472494193	3:9,477,591	G/A	—	likely pathogenic
rs1355754403	3:9,477,593	A/G	—	uncertain significance

Showing 100 of 830 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.