Variant (rsID / SNP)

rs139022622

rs139022622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,926,503. Clinical significance in the table: Likely benign.

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Reference-table entries

NPHP4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:5926503
Cytoband: 1p36.31
HGVS: NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis|Senior-Loken syndrome 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.