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VARIANT - TERM ANNOTATION REPORT

RGD ID: 38467170
Species: Homo sapiens
RGD Object: Variant
Symbol: CV933812
Name: NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)
Acc ID: DOID:0061010
Term: craniosynostosis 1
Definition: A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23438589/ "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)
CV933812 IAGP 8554872ClinVarClinVar Annotator: match by term: TWIST1-related craniosynostosisPMID:10649491 PMID:16251895 PMID:28492532 PMID:9585583
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