Variant (rsID / SNP)

rs450046

rs450046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRODH. Location: chromosome 22, position 18,901,004. Clinical significance in the table: Benign.

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Reference-table entries

PRODHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:18901004
Cytoband: 22q11.21
HGVS: NM_016335.6(PRODH):c.1562= (p.Arg521=)
Allele change: Missense_R521Q

Associated conditions / phenotypes

Proline dehydrogenase deficiency|Schizophrenia 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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