Variant (rsID / SNP)

rs121912605

rs121912605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 96,030,304. Clinical significance in the table: Pathogenic.

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Reference-table entries

PLCE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:96030304
Cytoband: 10q23.33
HGVS: NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)
Allele change: Missense_S1484L

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.