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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15159420
Species: Homo sapiens
RGD Object: Variant
Symbol: CV701485
Name: NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser)
Acc ID: DOID:0080382
Term: nephrotic syndrome type 3
Definition: A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17086182 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18065803 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV701485 IAGP 8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 3PMID:22865593 PMID:25741868 PMID:26467025 PMID:28492532
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