Variant (rsID / SNP)

rs119456962

rs119456962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,419,192. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHP3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:132419192
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
Allele change: Silent

Associated conditions / phenotypes

NPHP3-related Meckel-like syndrome|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.