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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12741568
Species: Homo sapiens
RGD Object: Variant
Symbol: CV358633
Name: NM_000071.3(CBS):c.1468-1G>A
Acc ID: DOID:9263
Term: homocystinuria
Definition: An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Homocystinuria "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)
CV358633 IAGP 8554872ClinVarClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATEDPMID:10338090 PMID:12124992 PMID:16199547 PMID:25741868 PMID:28492532
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