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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8643420
Species: Homo sapiens
RGD Object: Variant
Symbol: CV102403
Name: NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
Acc ID: DOID:0111112
Term: nephronophthisis 1
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9326933 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9361039 "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)
CV102403 IAGP 8554872ClinVarClinVar Annotator: match by term: juvenile nephronophthisisPMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532
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