Variant (rsID / SNP)

rs267607179

rs267607179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPNPEP3. Location: chromosome 22, position 41,320,486. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

XPNPEP3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:41320486
Cytoband: 22q13.2
HGVS: NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys)
Allele change: Missense_G453C

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.