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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8597623
Species: Homo sapiens
RGD Object: Variant
Symbol: CV22709
Name: NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)
Acc ID: DOID:0050328
Term: congenital hypothyroidism
Definition: A hypothyroidism that is present at birth. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Congenital_hypothyroidism "DO" "DO", http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism "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)
CV22709 IAGP 8554872ClinVarClinVar Annotator: match by term: Congenital hypothyroidismPMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 PMID:3998954
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