Annotation Detail
Information
- Associated Genes
- NOS2
- Associated Variants
-
NOS2 p.Thr919= (p.T919=)
(
ENST00000697339.1,
ENST00000646938.1,
ENST00000313735.11 )
NOS2 p.Thr919= (p.T919=) ( ENST00000313735.11, ENST00000646938.1, ENST00000697339.1 ) - Associated Disease
- NOS2-related disorder
- Source Database
- ClinVar
- Description
- NM_000625.4(NOS2):c.2757A>G (p.Thr919=) AND NOS2-related disorder
- ClinVar Allele ID
- 2848992
- ClinVar RefSeq Alternation Syntax
- NM_000625.4:c.2757A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003980959
- ClinVar Disease
- NOS2-related disorder
- Observed Origin Sample
- germline
Drugs