Annotation Detail
Information
- Associated Genes
- NOTCH4
- Associated Variants
-
NOTCH4 p.Asp272Gly (p.D272G)
(
ENST00000375023.3 )
NOTCH4 p.Asp272Gly (p.D272G) ( ENST00000375023.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004557.4(NOTCH4):c.815A>G (p.Asp272Gly) AND not provided
- ClinVar Allele ID
- 1277082
- ClinVar RefSeq Alternation Syntax
- NM_004557.4:c.815A>G
- ClinVar RefSeq Alternation Syntax
- NR_134949.2:n.954A>G
- ClinVar RefSeq Alternation Syntax
- NR_134950.2:n.954A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001708874
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs