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Variant (rsID / SNP)

rs111929795

PLCE1

rs111929795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCE1. Location: chromosome 10, position 96,084,122. 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
10:96084122
Cytoband
10q23.33
HGVS
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg)
Allele change
Missense_K2173R

Associated conditions / phenotypes

Nephrotic syndrome, type 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.