NEBL
This page contains an overview of the genetic variation in the NEBL 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:
NEBL gene and transcript details
Gene Name
nebulette
Gene Links
Ensembl: ENSG00000078114 -
Locus Reference Genomic: LRG_411
Genomic Location
Chromosome 10 : 21,074,676 - 21,186,134 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3042 bases) | Protein (1014 aa) |
|---|---|---|
 |
ENST00000377122 | ENSP00000366326 |
 |
LRG_411t2 | LRG_411p2 |
 |
NM_006393.2 | |
 |
O76041 |
Summary of NEBL in Cardiomyopathies
NEBL variants in ExAC
Details of the protein-altering NEBL 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 | 552 | 0.00807 |
| Truncating | 62 | 0.00110 |
| Missense | 409 | 0.00601 |
| Inframe | 5 | 0.00003 |
| Splice Site | 76 | 0.00093 |