Variant (rsID / SNP)

rs61751493

rs61751493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 95,930,939. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLCE1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:95930939
Cytoband: 10q23.33
HGVS: NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)
Allele change: Missense_R499C

Associated conditions / phenotypes

Nephrotic syndrome, type 3

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.