Variant (rsID / SNP)

rs192219615

rs192219615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 95,892,124. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PLCE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:95892124
Cytoband: 10q23.33
HGVS: NM_016341.4(PLCE1):c.1400C>T (p.Thr467Ile)
Allele change: Missense_T467I

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.