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VARIANT - TERM ANNOTATION REPORT

RGD ID: 155798924
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1859340
Name: NM_003235.5(TG):c.1274T>C (p.Met425Thr)
Acc ID: DOID:0112187
Term: thyroid dyshormonogenesis 3
Definition: A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/17244789/ "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)
CV1859340 IAGP 8554872ClinVarClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3PMID:25741868
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