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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8657856
Species: Homo sapiens
RGD Object: Variant
Symbol: CV132800
Name: NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
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.
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