NOS1AP
This page contains an overview of the genetic variation in the NOS1AP 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:
NOS1AP gene and transcript details
Gene Name
nitric oxide synthase 1 (neuronal) adaptor protein
Gene Links
Ensembl: ENSG00000198929 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 162,039,968 - 162,337,257 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1518 bases) | Protein (506 aa) |
|---|---|---|
 |
ENST00000361897 | ENSP00000355133 |
 |
||
 |
NM_014697.2 | |
 |
O75052 |
Summary of NOS1AP in Cardiomyopathies
NOS1AP variants in ExAC
Details of the protein-altering NOS1AP 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 | 147 | 0.00228 |
| Truncating | 5 | 0.00004 |
| Missense | 116 | 0.00187 |
| Inframe | 4 | 0.00003 |
| Splice Site | 22 | 0.00034 |