Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Ala666= (p.A666=) ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Ala666= (p.A666=) ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000603.5(NOS3):c.1998C>G (p.Ala666=) AND not provided
ClinVar Allele ID
389724
ClinVar RefSeq Alternation Syntax
NM_000603.5:c.1998C>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/RCV001683501
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs