rs2517617183
This variant is located in the CHCHD10 gene.
▶ClinVar annotation
Lower motor neuron syndrome with late-adult onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Autosomal dominant mitochondrial myopathy with exercise intolerance
View on ClinVar →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]
View all CHCHD10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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