CENPT

centromere protein T

Summary

The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

Known Variants59 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs549559983	16:67,862,204	G/A	—	uncertain significance
rs371089781	16:67,862,286	G/A	—	likely benign
rs759480785	16:67,862,381	G/C	—	uncertain significance
rs2544263884	16:67,862,436	A/C	—	uncertain significance
rs761940448	16:67,862,461	T/A	—	uncertain significance
rs1454703653	16:67,862,591	G/A	—	uncertain significance
rs1458463231	16:67,862,660	T/A	—	uncertain significance
rs1955144062	16:67,862,687	G/T	—	uncertain significance
rs371608100	16:67,862,694	G/A	—	uncertain significance
rs188159138	16:67,862,706	G/C	—	benign
rs1184592365	16:67,863,330	C/T	—	uncertain significance
rs201434551	16:67,863,341	G/A	—	likely benign
rs551110309	16:67,863,407	G/A	—	likely benign
rs3743733	16:67,863,451	T/C	—	benign
rs1364608764	16:67,863,667	C/T	—	pathogenic
rs1262824607	16:67,863,695	C/T	—	uncertain significance
rs376855723	16:67,863,739	C/A	—	uncertain significance
rs543043647	16:67,863,856	G/C	—	uncertain significance
rs754629150	16:67,863,857	C/T	—	uncertain significance
rs199517696	16:67,863,868	C/A	—	uncertain significance
rs773369608	16:67,864,335	C/T	—	likely benign
rs747138104	16:67,864,336	G/A	—	likely benign
rs769575578	16:67,864,350	C/T	—	uncertain significance
rs754356295	16:67,864,392	A/G	—	likely benign
rs56045040	16:67,864,396	G/A	—	likely benign
rs186354372	16:67,864,448	A/G	—	likely benign
rs8052287	16:67,865,073	G/A	—	benign
rs746805575	16:67,865,178	C/T	—	uncertain significance
rs776120648	16:67,865,182	G/A	—	uncertain significance
rs8056617	16:67,865,499	A/G	—	benign
rs2057689517	16:67,865,520	C/G	—	likely benign
rs1299475541	16:67,865,725	C/G	—	uncertain significance
rs746006421	16:67,865,761	G/C	—	uncertain significance
rs766211190	16:67,865,773	T/G	—	uncertain significance
rs1340555637	16:67,865,786	G/C	—	uncertain significance
rs375024438	16:67,865,803	T/C	—	likely benign
rs376460419	16:67,865,908	T/C	—	likely benign
rs183190026	16:67,865,924	C/T	—	likely benign
rs769630043	16:67,865,936	C/T	—	uncertain significance
rs11558533	16:67,865,937	T/C	—	benign
rs187620725	16:67,865,940	A/C	—	benign
rs749906158	16:67,866,008	G/C	—	uncertain significance
rs189805146	16:67,866,156	C/T	—	likely benign
rs1386806635	16:67,866,161	G/A	—	uncertain significance
rs947102331	16:67,866,181	T/C	—	uncertain significance
rs908806532	16:67,866,187	C/A	—	uncertain significance
rs113181211	16:67,866,223	C/T	—	benign
rs779684299	16:67,866,389	G/C	—	uncertain significance
rs544714137	16:67,866,395	G/C	—	uncertain significance
rs762747288	16:67,866,438	C/T	—	uncertain significance
rs200885136	16:67,866,443	C/T	—	likely benign
rs114895738	16:67,866,457	A/T	—	benign
rs73593810	16:67,866,783	C/T	regulatory region variant	—
rs200015349	16:67,867,680	G/A	—	uncertain significance
rs138604758	16:67,867,696	C/T	—	benign
rs11558534	16:67,867,739	G/T	—	benign
rs373445202	16:67,867,740	C/T	—	uncertain significance
rs192016383	16:67,867,768	C/A	—	benign
rs8060967	16:67,871,501	C/T	upstream gene variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.