Variant (rsID / SNP)

rs17472401

rs17472401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,940,243. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NPHP4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:5940243
Cytoband: 1p36.31
HGVS: NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis 4|Nephronophthisis

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.