Variant (rsID / SNP)

rs3747343

rs3747343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPNPEP2. Clinical significance in the table: Benign.

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Reference-table entries

XPNPEP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_003399.6(XPNPEP2):c.447T>C (p.Pro149=)
Allele change: Synonymous_P149P

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.