CENPP

centromere protein P

Summary

CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

Known Variants30 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7867909	9:95,092,013	G/C	upstream gene variant	—
rs1564261857	9:95,094,490	G/T	—	uncertain significance
rs141433549	9:95,094,506	A/T	—	uncertain significance
rs150818648	9:95,094,559	C/T	—	likely benign
rs72752403	9:95,106,600	A/C	upstream gene variant	—
rs757888117	9:95,108,012	A/T	—	uncertain significance
rs144342057	9:95,108,020	A/G	—	uncertain significance
rs12552866	9:95,110,549	G/A	intron variant	—
rs34774135	9:95,113,768	A/G	—	—
rs7848055	9:95,115,492	A/C	intron variant	—
rs181408453	9:95,116,407	G/A	intron variant	—
rs188363642	9:95,125,274	C/T	intron variant	—
rs10283572	9:95,133,074	G/A	intron variant	—
rs1307247577	9:95,142,052	G/C	—	uncertain significance
rs143792971	9:95,142,080	G/A	—	likely benign
rs772923884	9:95,142,129	T/G	—	uncertain significance
rs138441499	9:95,170,960	G/A	upstream gene variant	—
rs559929289	9:95,195,301	A/G	—	—
rs564507908	9:95,213,929	A/G	—	—
rs182736327	9:95,249,315	C/T	upstream gene variant	—
rs2026584	9:95,324,489	C/T	intron variant	—
rs10992374	9:95,336,327	A/C	intron variant	—
rs781488340	9:95,373,614	G/A	—	uncertain significance
rs138631718	9:95,373,661	C/A	—	uncertain significance
rs748491263	9:95,373,662	G/A	—	uncertain significance
rs144646695	9:95,373,668	C/T	—	likely benign
rs780223551	9:95,374,883	A/C	—	uncertain significance
rs200975219	9:95,375,333	A/G	—	likely benign
rs2490252140	9:95,375,337	C/G	—	uncertain significance
rs767442671	9:95,375,413	T/A	—	likely pathogenic

Gene information from NCBI Gene. Variant classifications from ClinVar.