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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8640170
Species: Homo sapiens
RGD Object: Variant
Symbol: CV99154
Name: NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
Acc ID: DOID:0080990
Term: King Denborough syndrome
Definition: A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK1146/ "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)
CV99154 IAGP 8554872ClinVarClinVar Annotator: match by term: King syndromePMID:18414213 PMID:25741868 PMID:28492532
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