rs775332895
This is a variant in the CHCHD10 gene that changes a proline to an leucine.
▶ClinVar annotation
Amyotrophic lateral sclerosis (ALS); Autosomal dominant mitochondrial myopathy with exercise intolerance (IMMD); CHCHD10-related disorder; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Inborn genetic diseases; Lower motor neuron syndrome with late-adult onset (SMAJ)
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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