Variant (rsID / SNP)

rs200482683

rs200482683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AXDND1, NPHS2. Location: chromosome 1, position 179,521,743. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AXDND1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:179521743
Cytoband: 1q25.2
HGVS: NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
Allele change: Silent

Associated conditions / phenotypes

Nephrotic syndrome, type 2, susceptibility to|Nephrotic syndrome, type 2

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.