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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9850984
Species: Homo sapiens
RGD Object: Variant
Symbol: CV181623
Name: NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
Acc ID: DOID:0050657
Term: Bannayan-Riley-Ruvalcaba syndrome
Definition: A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/31062505 "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)
CV181623 IAGP 8554872ClinVarClinVar Annotator: match by term: Cowden syndrome 1PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 PMID:25694510 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30152102
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