rs367684804

This variant is located in the CHCHD10 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters4 publications

Lower motor neuron syndrome with late-adult onset;Autosomal dominant mitochondrial myopathy with exercise intolerance;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; not provided

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About CHCHD10

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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