PRODH

proline dehydrogenase 1

Summary

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

Known Variants326 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs383964	22:18,900,669	G/A	—	benign
rs1183388799	22:18,900,688	C/T	—	uncertain significance
rs1157431206	22:18,900,698	C/T	—	uncertain significance
rs755449569	22:18,900,699	G/A	—	uncertain significance
rs1466933223	22:18,900,700	A/C	—	uncertain significance
rs2517446422	22:18,900,705	A/G	—	uncertain significance
rs779412444	22:18,900,719	C/T	—	uncertain significance
rs748701094	22:18,900,726	G/A	—	uncertain significance
rs1239323884	22:18,900,728	C/T	—	uncertain significance
rs1208461570	22:18,900,733	G/A	—	likely benign
rs2517446491	22:18,900,743	C/A	—	uncertain significance
rs372055	22:18,900,750	G/A	—	benign
rs184218784	22:18,900,762	G/A	—	conflicting classifications of pathogenicity
rs2517446586	22:18,900,787	G/A	—	likely benign
rs758860516	22:18,900,817	C/T	—	likely benign
rs146889635	22:18,900,831	C/T	—	uncertain significance
rs778275329	22:18,900,832	G/A	—	likely benign
rs142346005	22:18,900,839	T/G	—	conflicting classifications of pathogenicity
rs1321845990	22:18,900,846	C/T	—	uncertain significance
rs540773005	22:18,900,847	G/A	—	likely benign
rs778859889	22:18,900,858	C/T	—	uncertain significance
rs370212436	22:18,900,859	G/A	—	likely benign
rs16983347	22:18,900,868	A/G	—	likely benign
rs199660947	22:18,900,874	G/A	—	likely benign
rs773147149	22:18,900,879	C/T	—	likely benign
rs753373264	22:18,900,891	T/A	—	likely benign
rs2517446764	22:18,900,895	C/T	—	likely benign
rs2517446809	22:18,900,931	C/G	—	likely benign
rs1446600736	22:18,900,938	G/C	—	likely benign
rs745902339	22:18,900,950	C/G	—	uncertain significance
rs2517446842	22:18,900,954	G/T	—	uncertain significance
rs373157994	22:18,900,955	C/T	—	likely benign
rs372187772	22:18,900,990	G/A	—	conflicting classifications of pathogenicity
rs450046	22:18,901,004	C/T	missense variant	benign
rs193919334	22:18,901,005	G/C	missense variant	pathogenic
rs142972542	22:18,901,006	G/A	—	likely benign
rs144323192	22:18,901,008	G/A	—	uncertain significance
rs2517447006	22:18,901,022	A/C	—	uncertain significance
rs2517447015	22:18,901,023	G/A	—	likely benign
rs2517447046	22:18,901,035	C/T	—	uncertain significance
rs2146205858	22:18,901,042	G/A	—	uncertain significance
rs750508839	22:18,901,048	G/A	—	likely benign
rs756133347	22:18,901,050	G/A	—	likely benign
rs1341398310	22:18,901,058	G/A	—	likely benign
rs385440	22:18,901,090	G/A	—	benign
rs381848	22:18,901,290	G/A	—	benign
rs5992332	22:18,904,140	A/C	—	benign
rs419885	22:18,904,144	G/A	—	benign
rs762101453	22:18,904,388	G/A	—	likely benign
rs455072	22:18,904,414	A/G	—	benign
rs769832706	22:18,904,432	A/T	—	uncertain significance
rs1241975657	22:18,904,458	C/A	—	uncertain significance
rs370003523	22:18,904,464	C/T	—	likely benign
rs373455855	22:18,904,465	G/A	—	likely benign
rs139903009	22:18,904,466	T/C	—	likely benign
rs5992333	22:18,904,489	G/A	—	benign
rs2517449330	22:18,904,516	A/G	—	likely benign
rs375115	22:18,904,606	T/G	—	benign
rs426237	22:18,904,643	G/A	—	benign
rs8143003	22:18,904,749	G/A	—	benign
rs375735	22:18,904,750	G/T	—	benign
rs445612	22:18,905,523	C/T	—	benign
rs5747927	22:18,905,556	G/A	—	benign
rs370182	22:18,905,599	A/G	—	benign
rs5747928	22:18,905,606	G/C	—	benign
rs432841	22:18,905,624	G/A	—	benign
rs373250916	22:18,905,809	G/C	—	likely benign
rs765272958	22:18,905,821	C/A	—	likely benign
rs201286120	22:18,905,825	G/A	—	uncertain significance
rs1555890224	22:18,905,838	A/G	—	uncertain significance
rs2870983	22:18,905,842	C/T	missense variant	benign
rs200588737	22:18,905,843	G/A	—	likely benign
rs755810965	22:18,905,845	T/C	—	uncertain significance
rs372618210	22:18,905,854	C/T	—	uncertain significance
rs200018716	22:18,905,855	G/A	—	likely benign
rs142247512	22:18,905,858	C/T	—	benign
rs2870984	22:18,905,859	G/T	missense variant	uncertain significance
rs777346133	22:18,905,861	G/A	—	likely benign
rs2146209436	22:18,905,866	T/G	—	uncertain significance
rs1489514777	22:18,905,870	G/T	—	likely benign
rs2904550	22:18,905,882	G/T	—	benign
rs1183707184	22:18,905,883	C/T	—	uncertain significance
rs1807467	22:18,905,893	C/A	missense variant	risk factor
rs2238730	22:18,905,894	C/T	—	benign
rs3970559	22:18,905,899	G/A	missense variant	risk factor
rs1356230622	22:18,905,906	C/A	—	uncertain significance
rs2517450681	22:18,905,912	G/C	—	likely benign
rs140831950	22:18,905,928	C/T	—	uncertain significance
rs2904551	22:18,905,934	A/G	missense variant	pathogenic
rs2081943583	22:18,905,946	A/G	—	uncertain significance
rs746203888	22:18,905,955	C/T	—	uncertain significance
rs143011525	22:18,905,961	C/T	—	uncertain significance
rs376682221	22:18,905,962	G/A	—	uncertain significance
rs2904552	22:18,905,964	C/T	missense variant	pathogenic
rs2238731	22:18,905,977	C/T	—	benign
rs16983466	22:18,905,978	A/G	—	uncertain significance
rs144751631	22:18,905,991	T/C	—	benign
rs189009057	22:18,906,018	G/A	—	benign
rs2078641	22:18,906,655	T/C	—	benign
rs382067	22:18,906,705	A/G	—	benign

Showing 100 of 326 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.