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VARIANT - TERM ANNOTATION REPORT

RGD ID: 34898147
Species: Homo sapiens
RGD Object: Variant
Symbol: CV912899
Name: NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
Acc ID: DOID:0111243
Term: acromicric dysplasia
Definition: An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/3728563 "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)
CV912899 IAGP 8554872ClinVarClinVar Annotator: match by term: Acromicric skeletal dysplasiaPMID:25741868 PMID:28492532 PMID:30471092
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