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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10411382
Species: Homo sapiens
RGD Object: Variant
Symbol: CV211380
Name: NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
Acc ID: DOID:0050755
Term: ataxia with oculomotor apraxia type 2
Definition: An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK1154/ "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)
CV211380 IAGP 8554872ClinVarClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia

PMID:25741868 PMID:26285866 PMID:26467025
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