{{Rsnum
|rsid=2904552
|Gene=PRODH
|Chromosome=22
|position=18918451
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.05005
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PRODH
}}{{omim
|desc=HYPERPROLINEMIA, TYPE I
|id=606810
|rsnum=2904552
|variant=0007
}}
{{ neighbor
| rsid = 2904551
| distance = 30
}}
{{Venter SNP
|rsid=2904552
|allele=T
|frequency=
|uid=1103691005850
|type=homozygous_SNP
|hugo=PRODH
|ensembl gene=ENSG00000100033
|ensembl transcript=ENST00000334029
|sift=AFFECT FUNCTION
|disease=Defects in PRODH are the cause of type I hyperprolinaemia (MIM:239500). It is a disorder characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated in the 22q11 velocardiofacial syndrome.
}}

{{ClinVar
|rsid=2904552
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=18905964
|CHROM=22
|GMAF=0.0499
|dbSNPBuildID=101
|SSR=1
|SAO=1
|VP=0x050160000000150116110100
|GENEINFO=PRODH:5625
|GENE_NAME=PRODH
|GENE_ID=5625
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.18905964C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=606810.0007
|CLNSIG=255
|CLNCUI=C0268529
|CLNDBN=Proline dehydrogenase deficiency; Schizophrenia 4
|Disease=Proline dehydrogenase deficiency; Schizophrenia 4
|CLNACC=RCV000004224.1; RCV000004225.1
|Tags=PM;SLO;VLD;G5;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.95; 0.05005
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM
|CLNDSDBID=C0268529:239500:419:61071003; C1833247:600850
|COMMON=1
}}

{{GET Evidence
|gene=PRODH
|aa_change=Arg431His
|aa_change_short=R431H
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs2904552
|overall_frequency_n=858
|overall_frequency_d=10752
|overall_frequency=0.0797991
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|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=1
|qualitycomment_severity=Y
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=1
|max_or_disease_name=Hyperprolinemia, Type I
|max_or_case_pos=9
|max_or_case_neg=54
|max_or_control_pos=12
|max_or_control_neg=56
|max_or_or=0.778
|autoscore=3
|webscore=N
|n_web_uneval=9
|summary_short=This variant is associated with type I hyperprolinemia and leads to a reduction of POX activity to 60% of wildtype.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}