Variant (rsID / SNP)

rs375237454

rs375237454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,924,557. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPHP4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:5924557
Cytoband: 1p36.31
HGVS: NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)
Allele change: Silent

Associated conditions / phenotypes

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.