Variant (rsID / SNP)

rs58539480

rs58539480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 96,066,230. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLCE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:96066230
Cytoband: 10q23.33
HGVS: NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu)
Allele change: Missense_P1890L

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.