Variant (rsID / SNP)

rs148424288

rs148424288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,950,975. 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: 1:5950975
Cytoband: 1p36.31
HGVS: NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4

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.