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Variant (rsID / SNP)

rs190940697

NPHP4

rs190940697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 6,007,259. 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
1:6007259
Cytoband
1p36.31
HGVS
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
Allele change
Silent

Associated conditions / phenotypes

Nephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4

Public references

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