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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13492831
Species: Homo sapiens
RGD Object: Variant
Symbol: CV457060
Name: NM_194454.3(KRIT1):c.1730+6T>G
Acc ID: HP:0033522
Term: Cerebral cavernous malformation
Definition: A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.
Definition Source(s): PMID:30909834
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)
CV457060 IAGP 8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:17576681 PMID:28492532 PMID:9536098
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