Annotation Detail
Information
- Associated Genes
- NOTCH3
- Associated Variants
-
NOTCH3 p.Arg133Cys (p.R133C)
(
ENST00000263388.7 )
NOTCH3 p.Arg133Cys (p.R133C) ( ENST00000263388.7 ) - Associated Disease
- NOTCH3-related disorder
- Source Database
- ClinVar
- Description
- NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND NOTCH3-related disorder
- ClinVar Allele ID
- 24264
- ClinVar RefSeq Alternation Syntax
- NM_000435.3:c.397C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004532318
- ClinVar Disease
- NOTCH3-related disorder
- Observed Origin Sample
- germline
Drugs