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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156403527
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1871768
Name: NM_001369369.1(FOXN1):c.1316T>G (p.Leu439Arg)
Acc ID: DOID:0060769
Term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Definition: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10206641 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8911612 "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)
CV1871768 IAGP 8554872ClinVarClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophyPMID:28492532
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