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VARIANT - TERM ANNOTATION REPORT

RGD ID: 28909433
Species: Homo sapiens
RGD Object: Variant
Symbol: CV867336
Name: NM_002855.5(NECTIN1):c.629G>A (p.Arg210His)
Acc ID: DOID:0060773
Term: cleft lip-palate-ectodermal dysplasia syndrome
Definition: A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/3035184 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9758630 "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)
CV867336 IAGP 8554872ClinVarClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndromePMID:16674562 PMID:17089422 PMID:28492532
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