Annotation Detail
Information
- Associated Genes
- NOTCH1 LOC126860794
- Associated Variants
-
NOTCH1 p.Asp1989= (p.D1989=)
(
ENST00000651671.1,
ENST00000680133.1,
ENST00000680218.1,
ENST00000680668.1,
ENST00000680778.1 )
NOTCH1 p.Asp1989= (p.D1989=) ( ENST00000651671.1, ENST00000680133.1, ENST00000680218.1, ENST00000680668.1, ENST00000680778.1 ) - Associated Disease
- aortic valve disease 1
- Source Database
- ClinVar
- Description
- NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) AND Aortic valve disease 1
- ClinVar Allele ID
- 258566
- ClinVar RefSeq Alternation Syntax
- NM_017617.5:c.5967T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-03-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002270163
- ClinVar Disease
- Aortic valve disease 1
- Observed Origin Sample
- germline
Drugs