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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8600170
Species: Homo sapiens
RGD Object: Variant
Symbol: CV31387
Name: NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)
Acc ID: DOID:3138
Term: acanthosis nigricans
Definition: A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32516476/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK431057/ "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)
CV31387 IAGP 8554872ClinVarClinVar Annotator: match by term: Acanthosis nigricansPMID:11055896 PMID:11314002 PMID:16912704 PMID:18000903 PMID:20453470 PMID:21510009 PMID:25157968 PMID:28492532
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