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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8608198
Species: Homo sapiens
RGD Object: Variant
Symbol: CV49152
Name: NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
Acc ID: DOID:0060582
Term: Noonan syndrome 4
Definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19438935 "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)
CV49152 IAGP 8554872ClinVarClinVar Annotator: match by term: Noonan syndrome 4PMID:17143282 PMID:17586837 PMID:18854871 PMID:19352411 PMID:20133692 PMID:21340158 PMID:21387466 PMID:22190897 PMID:22465605 PMID:23487764 PMID:24033266 PMID:24803665 PMID:25741868 PMID:26607044 PMID:28492532 PMID:29493581 PMID:33128510 PMID:33771761
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