rs1807467
This is a variant in the PRODH gene that changes a alanine to an serine.
▶ClinVar annotation
Inborn genetic diseases; Proline dehydrogenase deficiency (HYRPRO1); Schizophrenia 4 (SCZD4)
View on ClinVar →About PRODH
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]
View all PRODH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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