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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8595160
Species: Homo sapiens
RGD Object: Variant
Symbol: CV15853
Name: NM_000038.6(APC):c.643C>T (p.Gln215Ter)
Acc ID: HP:0033769
Term: Fundic gland polyposis
Definition: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.
Definition Source(s): PMID:20567540
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)
CV15853 IAGP 8554872ClinVarClinVar Annotator: match by term: POLYPOSIS GASTRIC

PMID:1316610 PMID:17963004 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 PMID:7661930
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