Variant (rsID / SNP)

rs143719656

rs143719656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPNPEP3. Location: chromosome 22, position 41,282,309. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

XPNPEP3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:41282309
Cytoband: 22q13.2
HGVS: NM_022098.4(XPNPEP3):c.590-8A>G
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis-like nephropathy 1

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.