Annotation Detail
Information
- Associated Genes
- NOTCH3
- Associated Variants
-
NOTCH3 p.Ala2146= (p.A2146=)
(
ENST00000263388.7 )
NOTCH3 p.Ala2146= (p.A2146=) ( ENST00000263388.7 ) - Associated Disease
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Source Database
- ClinVar
- Description
- NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) AND Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- ClinVar Allele ID
- 256793
- ClinVar RefSeq Alternation Syntax
- NM_000435.3:c.6438G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000339594
- ClinVar Disease
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Observed Origin Sample
- germline
Drugs