{{Rsnum
|rsid=3970559
|Gene=PRODH
|Chromosome=22
|position=18918386
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.01148
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PRODH
}}{{omim
|desc=HYPERPROLINEMIA, TYPE I
|id=606810
|rsnum=3970559
|variant=0002
}}
{{ neighbor
| rsid = 1807467
| distance = 6
}}
{{ neighbor
| rsid = 2904551
| distance = 35
}}

{{ClinVar
|rsid=3970559
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=18905899
|CHROM=22
|GMAF=0.0114
|dbSNPBuildID=108
|SSR=1
|SAO=1
|VP=0x050060000000140016110100
|GENEINFO=PRODH:5625
|GENE_NAME=PRODH
|GENE_ID=5625
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.18905899G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606810.0002
|CLNSIG=255
|CLNCUI=C0268529
|CLNDBN=Proline dehydrogenase deficiency; Schizophrenia 4
|Disease=Proline dehydrogenase deficiency; Schizophrenia 4
|CLNACC=RCV000004214.1; RCV000004215.1
|Tags=PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9885; 0.01148
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM
|CLNDSDBID=C0268529:239500:419:61071003; C1833247:600850
|COMMON=1
}}

{{GET Evidence
|gene=PRODH
|aa_change=Arg453Cys
|aa_change_short=R453C
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs3970559
|overall_frequency_n=109
|overall_frequency_d=10758
|overall_frequency=0.010132
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=0
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=8
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=Associated with reduced proline oxidase activity, and may cause hyperprolemia in a recessive manner (when homozygous or compound heterozygous). Hyperprolemia, in turn, may be associated with schizophrenia.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}