CHCHD10 Chromosome 22
Coiled-coil-helix-coiled-coil-helix domain containing 10
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What This Gene Does
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
Coiled-coil-helix-coiled-coil-helix domain containing proteins
Locus Type
gene with protein product
Location
22q11.23
Ensembl
ENSG00000250479
Associated Conditions (6)
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases
CHCHD10-related disorder
Amyotrophic lateral sclerosis
Key Variants
RS1252496774
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS2517621695
Conflicting classifications of pathogenicity
Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Health Risk
RS374211312
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS374353973
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS542541060
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS766054125
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS767069606
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS775332895
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
Health Risk
RS868345557
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS9153
Conflicting classifications of pathogenicity
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS2145927350
Pathogenic
Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
Health Risk
RS730880031
Pathogenic
Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1252496774 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS2517621695 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
| RS374211312 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS374353973 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS542541060 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS766054125 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS767069606 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS775332895 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset |
| RS868345557 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS9153 | Health Risk | Conflicting classifications of pathogenicity | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS2145927350 | Health Risk | Pathogenic | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS730880031 | Health Risk | Pathogenic | Lower motor neuron syndrome with late-adult onset, Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset |
| RS730880033 | Health Risk | Pathogenic | Autosomal dominant mitochondrial myopathy with exercise intolerance, Autosomal dominant mitochondrial myopathy with exercise intolerance |
| RS587777574 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
| RS730880030 | Health Risk | Pathogenic/Likely pathogenic | Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance |