NEXN Chromosome 1
Nexilin F-actin binding protein
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What This Gene Does
This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000162614
Associated Conditions (22)
Cardiovascular phenotype
Hypertrophic cardiomyopathy 20
Dilated cardiomyopathy 1CC
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1S
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
NEXN-related disorder
Gastric cancer
Primary familial dilated cardiomyopathy
Ovarian serous cystadenocarcinoma
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Left ventricular hypertrophy
Hepatocellular carcinoma
Arrhythmogenic right ventricular dysplasia 9
Long QT syndrome
Abnormal cardiac test
dilated
2M
+2 more conditions
Key Variants
RS1002648603
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
Health Risk
RS1064797051
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
Health Risk
RS137853197
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1CC, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 20
Health Risk
RS1394704286
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Cardiovascular phenotype
Health Risk
RS1425668712
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
Health Risk
RS146245480
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 20, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1CC
Health Risk
RS1557988499
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Cardiovascular phenotype
Health Risk
RS1557990893
Conflicting classifications of pathogenicity
Cardiovascular phenotype, NEXN-related disorder, Cardiovascular phenotype
Health Risk
RS1557998187
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1571150562
Conflicting classifications of pathogenicity
Primary familial dilated cardiomyopathy, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
Health Risk
RS1650708891
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Health Risk
RS199738750
Conflicting classifications of pathogenicity
Cardiomyopathy, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS915318065 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS999958582 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Cardiomyopathy |
| RS2102147202 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS2523223119 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS2526786866 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS761030548 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Cardiovascular phenotype |
| RS794729086 | Health Risk | Likely pathogenic | — |
| RS1361285566 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS1553240600 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2102146999 | Health Risk | Pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS2523206492 | Health Risk | Pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS2523207851 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2523208787 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2523208987 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2523247994 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2523301351 | Health Risk | Pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS2523301824 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2526788988 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS387907079 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 20, Hypertrophic cardiomyopathy 20 |
| RS779386334 | Health Risk | Pathogenic | Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS747902604 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Heart failure |