Variant (rsID / SNP)

rs144850331

rs144850331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP1. Location: chromosome 2, position 110,881,452. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPHP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:110881452
Cytoband: 2q13
HGVS: NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
Allele change: Synonymous_L706L

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.