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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11345981
Species: Homo sapiens
RGD Object: Variant
Symbol: CV240856
Name: NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe)
Acc ID: DOID:0111686
Term: hereditary mixed polyposis syndrome 2
Definition: A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16525031 "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)
CV240856 IAGP 8554872ClinVarClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2PMID:25741868 PMID:26467025 PMID:28492532
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