Annotation Detail
Information
- Associated Genes
- NOTCH3
- Associated Variants
-
NOTCH3 p.Ala202= (p.A202=)
(
ENST00000263388.7 )
NOTCH3 p.Ala202= (p.A202=) ( ENST00000263388.7 ) - Associated Disease
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Source Database
- ClinVar
- Description
- NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) AND Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- ClinVar Allele ID
- 256825
- ClinVar RefSeq Alternation Syntax
- NM_000435.3:c.606A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000374496
- ClinVar Disease
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Observed Origin Sample
- germline
Drugs