Variant (rsID / SNP)

rs186950965

rs186950965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP1. Location: chromosome 2, position 110,881,489. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NPHP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:110881489
Cytoband: 2q13
HGVS: NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)
Allele change: Missense_Q694R

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.