Variant (rsID / SNP)

rs121907899

rs121907899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP1. Location: chromosome 2, position 110,920,625. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:110920625
Cytoband: 2q13
HGVS: NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
Allele change: Missense_G343R

Associated conditions / phenotypes

Nephronophthisis 1|Nephronophthisis|NPHP1-Related Disorders

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.