Annotation Detail
Information
- Associated Genes
- NOTCH3
- Associated Variants
-
NOTCH3 p.Arg133Cys (p.R133C)
(
ENST00000263388.7 )
NOTCH3 p.Arg133Cys (p.R133C) ( ENST00000263388.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) AND not provided
- ClinVar Allele ID
- 24264
- ClinVar RefSeq Alternation Syntax
- NM_000435.3:c.397C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000516340
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs