Variant (rsID / SNP)

rs2274223

rs2274223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 96,066,341. Clinical significance in the table: Benign.

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Reference-table entries

PLCE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:96066341
Cytoband: 10q23.33
HGVS: NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg)
Allele change: Missense_H1927R

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.