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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12911300
Species: Homo sapiens
RGD Object: Variant
Symbol: CV416937
Name: NM_000314.8(PTEN):c.165-2A>G
Acc ID: DOID:0080191
Term: PTEN hamartoma tumor syndrome
Definition: A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22628360 "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)
CV416937 IAGP 8554872ClinVarClinVar Annotator: match by term: PTEN hamartoma tumor syndromePMID:16199547 PMID:21194675 PMID:28492532 PMID:28526761 PMID:28677221 PMID:9467011
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