Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 p.Asp298Glu (p.D298E)
(
ENST00000297494.8,
ENST00000461406.5,
ENST00000467517.1,
ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) AND not specified
- ClinVar Allele ID
- 29054
- ClinVar RefSeq Alternation Syntax
- NM_001160109.2:c.894T>G
- ClinVar RefSeq Alternation Syntax
- NM_000603.5:c.894T>G
- ClinVar RefSeq Alternation Syntax
- NM_001160110.1:c.894T>G
- ClinVar RefSeq Alternation Syntax
- NM_001160111.1:c.894T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-03-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000455688
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs