NOS3
This page contains an overview of the genetic variation in the NOS3 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
NOS3 gene and transcript details
Gene Name
nitric oxide synthase 3 (endothelial cell)
Gene Links
Ensembl: ENSG00000164867 -
Locus Reference Genomic:
Genomic Location
Chromosome 7 : 150,690,892 - 150,711,257 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3609 bases) | Protein (1203 aa) |
|---|---|---|
 |
ENST00000297494 | ENSP00000297494 |
 |
||
 |
NM_000603.4 | |
 |
P29474 |
Summary of NOS3 in Cardiomyopathies
NOS3 variants in ExAC
Details of the protein-altering NOS3 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 513 | 0.00833 |
| Truncating | 28 | 0.00035 |
| Missense | 406 | 0.00648 |
| Inframe | 2 | 0.00004 |
| Splice Site | 77 | 0.00147 |