rs370182
This variant is located in the PRODH gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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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