Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142021049

NPHP3

rs142021049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,427,063. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NPHP3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:132427063
Cytoband
3q22.1
HGVS
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
Allele change
Silent

Associated conditions / phenotypes

Nephronophthisis|Nephronophthisis 3|NPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.