Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 p.Val827Met (p.V827M)
(
ENST00000297494.8,
ENST00000461406.5 )
NOS3 p.Val827Met (p.V827M) ( ENST00000297494.8, ENST00000461406.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000603.5(NOS3):c.2479G>A (p.Val827Met) AND not provided
- ClinVar Allele ID
- 2823336
- ClinVar RefSeq Alternation Syntax
- NM_000603.5:c.2479G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-04-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003423829
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs