Annotation Detail

Information
Associated Genes
NOS3 ATG9B
Associated Variants
NOS3 c.3106+11G>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.3106+11G>T ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000603.5(NOS3):c.3106+11G>T AND not provided
ClinVar Allele ID
389815
ClinVar RefSeq Alternation Syntax
NM_000603.5:c.3106+11G>T
ClinVar RefSeq Alternation Syntax
NR_133652.1:n.4303C>A
ClinVar RefSeq Alternation Syntax
NR_073169.1:n.3566C>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2021-05-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001672769
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs