NEBL Chromosome 10
Nebulette
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What This Gene Does
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"LIM domain containing|Nebulin family"
Locus Type
gene with protein product
Location
10p12.31
Ensembl
ENSG00000078114
Associated Conditions (10)
Primary dilated cardiomyopathy
NEBL-related disorder
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Distal monosomy 10p
sudden unexplained death in epilepsy
Sudden unexplained death
Long QT syndrome
Familial cancer of breast
Key Variants
RS114875104
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy
Health Risk
RS1367210165
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS137973321
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy
Health Risk
RS139581346
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS139610204
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS139809958
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS141285752
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS142138590
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS143644290
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS146198369
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy
Health Risk
RS146275785
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Primary dilated cardiomyopathy, NEBL-related disorder
Health Risk
RS147622517
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114875104 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy |
| RS1367210165 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS137973321 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy |
| RS139581346 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS139610204 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS139809958 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS141285752 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS142138590 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS143644290 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS146198369 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy |
| RS146275785 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, NEBL-related disorder |
| RS147622517 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS147901148 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1844740327 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS186851083 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Familial cancer of breast, Primary dilated cardiomyopathy |
| RS189440246 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, NEBL-related disorder, Primary dilated cardiomyopathy |
| RS191012363 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS193163659 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS200249470 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS200574474 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS200705273 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS200799762 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS201822024 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS368268112 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS373813159 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS41277374 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, NEBL-related disorder |
| RS535927510 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS566320226 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS71578983 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, NEBL-related disorder |
| RS727503338 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504904 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS75301590 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS761052528 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS762884881 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS767675377 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS770234424 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS774294999 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS776185255 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS778658096 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS780384504 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS794729077 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS923819811 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS931654806 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS944343501 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS768079285 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |