PRODH Chromosome 22

Proline dehydrogenase 1
33 variants 33 Health Risk

Upload your DNA to see your personal genotypes for variants in PRODH.

What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000100033
Associated Conditions (5)
Proline dehydrogenase deficiency
Schizophrenia 4
Inborn genetic diseases
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Key Variants
RS1076466
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
Health Risk
RS1210314134
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
Health Risk
RS1325076439
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
Health Risk
RS137852934
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
Health Risk
RS139870359
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Inborn genetic diseases, Proline dehydrogenase deficiency
Health Risk
RS142346005
Conflicting classifications of pathogenicity
Inborn genetic diseases, Proline dehydrogenase deficiency, Schizophrenia 4
Health Risk
RS148375080
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
Health Risk
RS150288279
Conflicting classifications of pathogenicity
Inborn genetic diseases, Proline dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS1807467
Conflicting classifications of pathogenicity
Schizophrenia 4, Proline dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS184218784
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Schizophrenia 4, Inborn genetic diseases
Health Risk
RS2870984
Conflicting classifications of pathogenicity
Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
Health Risk
RS2904551
Conflicting classifications of pathogenicity
Schizophrenia 4, Proline dehydrogenase deficiency, Inborn genetic diseases
Health Risk
All Variants (33)
RSID Category Clinical Significance Conditions
RS1076466 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS1210314134 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS1325076439 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS137852934 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS139870359 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Inborn genetic diseases, Proline dehydrogenase deficiency
RS142346005 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Proline dehydrogenase deficiency, Schizophrenia 4
RS148375080 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS150288279 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Proline dehydrogenase deficiency, Inborn genetic diseases
RS1807467 Health Risk Conflicting classifications of pathogenicity Schizophrenia 4, Proline dehydrogenase deficiency, Inborn genetic diseases
RS184218784 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Inborn genetic diseases
RS2870984 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS2904551 Health Risk Conflicting classifications of pathogenicity Schizophrenia 4, Proline dehydrogenase deficiency, Inborn genetic diseases
RS2904552 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS372187772 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS3970555 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS3970559 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS535186636 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS539772713 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS747609336 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS751149776 Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4, Acute myeloid leukemia
RS2082011693 Health Risk Likely pathogenic Schizophrenia 4, Proline dehydrogenase deficiency, Schizophrenia 4
RS2870997 Health Risk Likely pathogenic Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
RS1305005935 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS1347601186 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS193919334 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2146223995 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517453236 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517455884 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517460527 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517463579 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS755378169 Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS772562722 Health Risk Pathogenic Inborn genetic diseases, Proline dehydrogenase deficiency, Inborn genetic diseases
RS780557421 Health Risk Pathogenic/Likely pathogenic Proline dehydrogenase deficiency, Schizophrenia 4, Proline dehydrogenase deficiency
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