Variant (rsID / SNP)

rs4819756

rs4819756 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRODH. Location: chromosome 22, position 18,912,678. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRODHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:18912678
Cytoband: 22q11.21
HGVS: NM_016335.6(PRODH):c.553= (p.Trp185=)
Allele change: Missense_W185R

Associated conditions / phenotypes

Proline dehydrogenase deficiency

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.