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VARIANT - TERM ANNOTATION REPORT

RGD ID: 26891258
Species: Homo sapiens
RGD Object: Variant
Symbol: CV849758
Name: NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
Acc ID: DOID:10588
Term: adrenoleukodystrophy
Definition: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Adrenoleukodystrophy "DO" "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy "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)
CV849758 IAGP 8554872ClinVarClinVar Annotator: match by term: AdrenoleukodystrophyPMID:20661612 PMID:21700483 PMID:23566833 PMID:24719134 PMID:28492532 PMID:7717396 PMID:8651290
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