Variant (rsID / SNP)

rs33950747

rs33950747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,339,247. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NPHS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:36339247
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)
Allele change: Missense_R408Q

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.