Variant (rsID / SNP)

rs3814995

rs3814995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,342,212. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:36342212
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)
Allele change: Missense_E117K

Associated conditions / phenotypes

Finnish congenital nephrotic syndrome|Congenital 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.