Variant (rsID / SNP)

rs74315343

rs74315343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS2. Location: chromosome 1, position 179,530,463. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:179530463
Cytoband: 1q25.2
HGVS: NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)
Allele change: Nonsense_R138X

Associated conditions / phenotypes

Nephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome|Idiopathic nephrotic syndrome

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.