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Variant (rsID / SNP)

rs199583130

NPHP4

rs199583130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,924,411. 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
1:5924411
Cytoband
1p36.31
HGVS
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)
Allele change
Silent

Associated conditions / phenotypes

Nephronophthisis|Congenital anomaly of kidney and urinary tract

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.