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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12742468
Species: Homo sapiens
RGD Object: Variant
Symbol: CV360153
Name: NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
Acc ID: DOID:0110097
Term: short-rib thoracic dysplasia 9 with or without polydactyly
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22503633 "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)
CV360153 IAGP 8554872ClinVarClinVar Annotator: match by term: Saldino-Mainzer syndromePMID:28492532 PMID:28844315 PMID:29688594 PMID:29706353
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