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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13482669
Species: Homo sapiens
RGD Object: Variant
Symbol: CV455646
Name: NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
Acc ID: DOID:0110861
Term: autosomal recessive polycystic kidney disease
Definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease "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)
CV455646 IAGP 8554872ClinVarClinVar Annotator: match by term: Autosomal recessive polycystic kidney diseasePMID:25741868 PMID:27225849 PMID:28492532
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