Variant (rsID / SNP)

rs121917723

rs121917723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEPD. Location: chromosome 19, position 33,892,761. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PEPDLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:33892761
Cytoband: 19q13.11
HGVS: NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)
Allele change: Missense_G237D

Associated conditions / phenotypes

Prolidase 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.