P3H2

prolyl 3-hydroxylase 2

Summary

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants552 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs145678898	3:189,675,567	T/C	—	likely benign
rs773814562	3:189,675,715	T/C	—	uncertain significance
rs767065417	3:189,675,722	G/A	—	likely benign
rs2108899310	3:189,675,761	A/C	—	uncertain significance
rs1722692833	3:189,675,784	G/A	—	uncertain significance
rs571855250	3:189,675,789	C/T	—	uncertain significance
rs751877902	3:189,675,790	G/A	—	uncertain significance
rs2108899349	3:189,675,796	G/C	—	uncertain significance
rs143985056	3:189,681,460	C/T	—	benign
rs837679	3:189,681,484	C/T	—	benign
rs1719581	3:189,681,558	C/G	—	benign
rs376374097	3:189,681,727	T/C	—	likely benign
rs370823745	3:189,681,731	C/A	—	likely benign
rs376726481	3:189,681,732	G/A	—	likely benign
rs778369710	3:189,681,736	G/A	—	likely benign
rs1722894834	3:189,681,747	C/T	—	uncertain significance
rs578158144	3:189,681,756	A/G	—	likely benign
rs890670049	3:189,681,758	A/G	—	uncertain significance
rs1339275479	3:189,681,767	C/T	—	uncertain significance
rs745507744	3:189,681,777	C/G	—	conflicting classifications of pathogenicity
rs1577241673	3:189,681,778	C/G	—	uncertain significance
rs2473788883	3:189,681,780	C/T	—	likely benign
rs377236809	3:189,681,785	C/T	—	uncertain significance
rs771726888	3:189,681,788	C/T	—	uncertain significance
rs750077156	3:189,681,794	A/C	—	uncertain significance
rs776598543	3:189,681,799	T/C	—	uncertain significance
rs1722898307	3:189,681,827	G/A	—	uncertain significance
rs145198817	3:189,681,829	G/A	—	uncertain significance
rs149099374	3:189,681,831	G/T	—	uncertain significance
rs1387026412	3:189,681,838	C/G	—	uncertain significance
rs1019382778	3:189,681,841	C/G	—	uncertain significance
rs760790216	3:189,681,843	A/C	—	likely benign
rs537633282	3:189,681,846	T/A	—	likely benign
rs1263758487	3:189,681,860	T/C	—	uncertain significance
rs765123377	3:189,681,862	C/A	—	uncertain significance
rs758007118	3:189,681,863	G/A	—	uncertain significance
rs779735268	3:189,681,864	C/T	—	likely benign
rs780622871	3:189,681,875	G/A	—	uncertain significance
rs748057759	3:189,681,877	T/G	—	uncertain significance
rs1022883474	3:189,681,894	A/C	—	likely benign
rs1722903551	3:189,681,896	G/A	—	likely benign
rs1365270407	3:189,681,897	A/C	—	likely benign
rs3732920	3:189,688,569	A/C	—	benign
rs1560341338	3:189,688,586	C/T	—	likely benign
rs766718303	3:189,688,592	T/A	—	likely benign
rs1295191218	3:189,688,604	C/T	—	likely pathogenic
rs549590724	3:189,688,628	C/G	—	uncertain significance
rs1439075333	3:189,688,637	T/C	—	uncertain significance
rs777835320	3:189,688,643	C/T	—	uncertain significance
rs2108907682	3:189,688,656	G/A	—	likely benign
rs1723157146	3:189,688,663	T/C	—	uncertain significance
rs1420800871	3:189,688,666	A/G	—	uncertain significance
rs116310842	3:189,688,667	T/C	—	uncertain significance
rs376254011	3:189,688,669	T/G	—	uncertain significance
rs1375132303	3:189,688,671	T/C	—	likely benign
rs368494797	3:189,688,676	G/A	—	uncertain significance
rs758527490	3:189,688,684	T/C	—	likely benign
rs766706242	3:189,688,691	G/A	—	likely benign
rs751872172	3:189,688,696	G/A	—	likely benign
rs759184471	3:189,688,699	A/T	—	likely benign
rs113747051	3:189,688,786	T/C	—	likely benign
rs1723187739	3:189,689,663	C/T	—	likely benign
rs35067805	3:189,689,689	G/A	—	pathogenic
rs34620268	3:189,689,692	A/G	—	uncertain significance
rs140544765	3:189,689,693	T/C	—	likely benign
rs114217732	3:189,689,696	G/A	—	benign
rs1403616812	3:189,689,708	C/T	—	likely benign
rs2108908334	3:189,689,714	C/T	—	pathogenic
rs2108908337	3:189,689,719	A/G	—	uncertain significance
rs750424587	3:189,689,722	C/T	—	uncertain significance
rs75714029	3:189,689,723	G/A	—	benign
rs1485170596	3:189,689,741	C/T	—	likely benign
rs766232136	3:189,689,746	A/T	—	uncertain significance
rs2108908365	3:189,689,762	G/T	—	likely benign
rs767012332	3:189,689,770	—	—	pathogenic
rs201676771	3:189,689,778	T/C	—	uncertain significance
rs776013018	3:189,689,785	T/C	—	uncertain significance
rs760338105	3:189,689,796	C/A	—	uncertain significance
rs548181333	3:189,689,804	A/G	—	likely benign
rs200866830	3:189,689,809	G/A	—	likely benign
rs710543	3:189,689,904	G/A	—	benign
rs1540816	3:189,690,069	G/A	—	benign
rs34360072	3:189,690,138	G/A	—	benign
rs112682998	3:189,690,386	C/T	—	likely benign
rs6444410	3:189,690,561	G/A	—	benign
rs2473800180	3:189,690,646	T/A	—	likely benign
rs2108908831	3:189,690,651	C/G	—	likely benign
rs769193681	3:189,690,656	A/G	—	likely benign
rs2108908834	3:189,690,657	T/G	—	uncertain significance
rs1723215695	3:189,690,659	T/C	—	uncertain significance
rs1416034433	3:189,690,667	C/G	—	likely benign
rs1326338537	3:189,690,671	G/A	—	uncertain significance
rs946647722	3:189,690,674	G/T	—	uncertain significance
rs376010445	3:189,690,677	C/T	—	uncertain significance
rs772782439	3:189,690,678	G/A	—	pathogenic
rs142826976	3:189,690,690	G/A	—	uncertain significance
rs2473800326	3:189,690,718	C/G	—	likely benign
rs61745247	3:189,690,727	A/G	—	likely benign
rs1384962507	3:189,690,747	G/A	—	pathogenic
rs764291198	3:189,690,757	G/A	—	likely benign

Showing 100 of 552 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.