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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11654226
Species: Homo sapiens
RGD Object: Variant
Symbol: CV288137
Name: NM_003590.5(CUL3):c.*2868T>C
Acc ID: DOID:0060855
Term: autosomal dominant pseudohypoaldosteronism type 1
Definition: A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9662404 "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)
CV288137 IAGP 8554872ClinVarClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant 
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