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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9852273
Species: Homo sapiens
RGD Object: Variant
Symbol: CV183139
Name: NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
Acc ID: DOID:12704
Term: ataxia telangiectasia
Definition: An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia "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)
CV183139 IAGP 8554872ClinVarClinVar Annotator: match by term: Ataxia-telangiectasia syndromePMID:25085752 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26911350 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30093976 PMID:30287823 PMID:31719806 PMID:31742824 PMID:32973888 PMID:32984025 PMID:33436325 PMID:33471991
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