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VARIANT - TERM ANNOTATION REPORT

RGD ID: 28883493
Species: Homo sapiens
RGD Object: Variant
Symbol: CV872815
Name: NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser)
Acc ID: DOID:0070126
Term: congenital nongoitrous hypothyroidism 1
Definition: A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8954020 "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)
CV872815 IAGP 8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 
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