Variant (rsID / SNP)

rs61749239

rs61749239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 95,791,316. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PLCE1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:95791316
Cytoband: 10q23.33
HGVS: NM_016341.4(PLCE1):c.513G>A (p.Val171=)
Allele change: Synonymous_V171V

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.