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Variant (rsID / SNP)

rs2904552

PRODH

rs2904552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRODH. Location: chromosome 22, position 18,905,964. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRODHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:18905964
Cytoband
22q11.21
HGVS
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
Allele change
Missense_R431H

Associated conditions / phenotypes

Proline dehydrogenase deficiency|Schizophrenia 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.