Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

RGD ID: 10767416
Species: Homo sapiens
RGD Object: Variant
Symbol: CV222879
Name: NM_000533.5(PLP1):c.-31C>T
Acc ID: HP:0003269
Term: Sudanophilic leukodystrophy
Definition: null
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)
CV222879 IAGP 8554872ClinVarClinVar Annotator: match by term: Sudanophilic leukodystrophy

PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:8723686
Go Back to source page   Continue to Ontology report