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VARIANT - TERM ANNOTATION REPORT

RGD ID: 126745785
Species: Homo sapiens
RGD Object: Variant
Symbol: CV976102
Name: NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter)
Acc ID: DOID:12679
Term: nephrocalcinosis
Definition: A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Definition Source(s): MESH:D009397
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)
CV976102 IAGP 8554872ClinVarClinVar Annotator: match by term: NephrocalcinosisPMID:25741868 PMID:28492532 PMID:28893421
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