Variant (rsID / SNP)

rs2230062

rs2230062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEPD. Location: chromosome 19, position 33,878,977. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEPDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:33878977
Cytoband: 19q13.11
HGVS: NM_000285.4(PEPD):c.1163G>A (p.Arg388His)
Allele change: Missense_R347H

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.