PHC1

polyhomeotic homolog 1

Summary

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]

Known Variants111 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs776812779	12:9,070,286	A/C	—	uncertain significance
rs749992978	12:9,070,331	G/A	—	uncertain significance
rs1262736941	12:9,070,335	G/C	—	uncertain significance
rs749021560	12:9,070,344	C/T	—	uncertain significance
rs4883198	12:9,070,366	T/A	—	benign
rs2137054010	12:9,070,373	C/T	—	pathogenic
rs377364177	12:9,070,374	G/A	—	uncertain significance
rs4883199	12:9,070,578	T/C	—	benign
rs11611936	12:9,072,162	C/T	—	benign
rs140650800	12:9,072,399	C/T	—	likely benign
rs201150017	12:9,072,456	C/A	—	likely benign
rs372353919	12:9,073,600	G/A	—	uncertain significance
rs762638543	12:9,073,639	A/C	—	uncertain significance
rs139679067	12:9,073,654	A/G	—	uncertain significance
rs199761930	12:9,073,668	A/G	—	uncertain significance
rs1419370980	12:9,074,215	T/C	—	uncertain significance
rs758743138	12:9,074,257	C/T	—	uncertain significance
rs1805741	12:9,074,259	C/T	—	benign
rs1945368442	12:9,074,275	A/G	—	uncertain significance
rs1805740	12:9,075,014	G/T	—	benign
rs142253130	12:9,075,258	C/T	—	uncertain significance
rs1452262930	12:9,075,306	G/A	—	uncertain significance
rs370885224	12:9,075,393	C/T	—	likely benign
rs11048036	12:9,076,507	A/G	intron variant	—
rs10771216	12:9,076,740	T/G	intron variant	—
rs4883201	12:9,082,581	A/G	intron variant	—
rs12371578	12:9,082,757	C/T	—	benign
rs1805778	12:9,082,855	A/G	—	benign
rs768741645	12:9,083,039	C/A	—	uncertain significance
rs2497375619	12:9,083,157	G/T	—	uncertain significance
rs1324102472	12:9,083,230	G/C	—	uncertain significance
rs2497377525	12:9,083,289	T/G	—	uncertain significance
rs2497377547	12:9,083,290	T/G	—	uncertain significance
rs1805777	12:9,083,336	A/G	—	benign
rs149952935	12:9,083,429	G/T	—	uncertain significance
rs181118510	12:9,083,482	G/A	—	uncertain significance
rs1805737	12:9,084,670	A/T	intron variant	—
rs1805736	12:9,084,931	G/A	—	benign
rs887783	12:9,085,099	G/A	—	benign
rs768420929	12:9,085,277	G/A	—	likely benign
rs774175750	12:9,085,282	G/A	—	uncertain significance
rs767451553	12:9,085,291	A/G	—	uncertain significance
rs748864009	12:9,085,333	A/T	—	uncertain significance
rs747937589	12:9,085,343	A/T	—	uncertain significance
rs766337438	12:9,085,355	G/A	—	likely benign
rs966997332	12:9,085,369	A/C	—	uncertain significance
rs1945727041	12:9,085,377	G/A	—	uncertain significance
rs748856718	12:9,085,423	A/C	—	uncertain significance
rs754554396	12:9,085,428	G/T	—	uncertain significance
rs747853117	12:9,085,442	G/C	—	uncertain significance
rs12810327	12:9,085,452	C/A	—	benign
rs746879290	12:9,085,470	G/A	—	uncertain significance
rs2497401555	12:9,085,473	C/A	—	uncertain significance
rs1010585625	12:9,085,573	C/T	—	uncertain significance
rs202158376	12:9,085,589	C/T	—	likely benign
rs2497403535	12:9,085,605	G/C	—	uncertain significance
rs878853029	12:9,085,651	G/A	—	likely benign
rs751459924	12:9,085,695	C/T	—	likely benign
rs864309586	12:9,085,719	C/T	—	uncertain significance
rs201210657	12:9,085,788	C/G	—	likely benign
rs1485059982	12:9,085,819	T/G	—	uncertain significance
rs1053401532	12:9,085,830	A/T	—	uncertain significance
rs1213742874	12:9,085,876	G/A	—	uncertain significance
rs141573939	12:9,085,898	T/G	—	likely benign
rs768095941	12:9,085,938	C/A	—	uncertain significance
rs374957900	12:9,085,945	C/T	—	uncertain significance
rs11048097	12:9,086,240	A/G	—	benign
rs1805773	12:9,086,553	G/A	—	benign
rs200747002	12:9,086,594	A/G	—	uncertain significance
rs1805735	12:9,086,683	A/T	—	benign
rs754880696	12:9,086,872	A/C	—	uncertain significance
rs1049925	12:9,086,898	A/G	—	benign
rs146095202	12:9,086,899	C/T	—	uncertain significance
rs1440428959	12:9,086,921	C/G	—	likely benign
rs144307674	12:9,086,931	G/A	—	likely benign
rs1048234329	12:9,086,986	C/T	—	uncertain significance
rs2497421462	12:9,087,040	G/C	—	uncertain significance
rs149376854	12:9,087,059	A/G	—	likely benign
rs1805772	12:9,087,081	A/G	—	benign
rs370773541	12:9,087,082	C/T	—	likely benign
rs144694464	12:9,087,775	C/T	—	uncertain significance
rs1002305357	12:9,087,791	G/C	—	uncertain significance
rs16917905	12:9,087,866	A/T	—	benign
rs10400516	12:9,088,853	T/C	downstream gene variant	—
rs1805733	12:9,089,272	A/C	—	benign
rs1184527950	12:9,089,807	A/C	—	uncertain significance
rs1945863420	12:9,089,824	G/C	—	uncertain significance
rs758010534	12:9,089,840	A/G	—	uncertain significance
rs756227858	12:9,089,854	C/T	—	uncertain significance
rs774723370	12:9,089,861	G/A	—	uncertain significance
rs757112615	12:9,089,899	A/G	—	uncertain significance
rs372044180	12:9,089,920	C/T	—	uncertain significance
rs755145737	12:9,089,921	G/A	—	uncertain significance
rs12371786	12:9,090,086	G/A	—	benign
rs1805768	12:9,090,298	G/A	—	benign
rs2137138532	12:9,090,506	G/T	—	uncertain significance
rs2497459032	12:9,090,518	C/T	—	uncertain significance
rs141256799	12:9,090,522	G/A	—	uncertain significance
rs1049948	12:9,090,528	G/A	—	benign
rs1945888744	12:9,090,577	C/T	—	likely benign

Showing 100 of 111 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.