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CHCHD10

From SNPedia

is agene
is mentioned by
Full namecoiled-coil-helix-coiled-coil-helix domain containing 10
EntrezGene400916
PheGenI400916
VariationViewer400916
ClinVarCHCHD10
dbSNP400916
SADR400916
HugeNav400916
wikipediaCHCHD10
googleCHCHD10
gopubmedCHCHD10
EVSCHCHD10
HEFalMpCHCHD10
MyGene2CHCHD10
23andMeCHCHD10
UniProtQ8WYQ3
EnsemblENSG00000250479
OMIM615903
# SNPs7
 Max MagnitudeChromosome positionSummary
rs551521196023,767,535
rs587777574023,767,459
rs730880030023,767,591
rs730880031623,767,438
rs730880032023,767,592
rs730880033023,767,463
rs775332895023,767,396


[PMID 26344877] The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

[PMID 26251896OA-icon.png] Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.

[PMID 26224640] Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

[PMID 26152333] Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

[PMID 26131548] CHCHD10-Related Disorders.

[PMID 26095063] CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

[PMID 26059445] Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

[PMID 25833818OA-icon.png] Mutation analysis of CHCHD10 in different neurodegenerative diseases.

[PMID 25681414OA-icon.png] A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

[PMID 25576308OA-icon.png] CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

[PMID 25428574] Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

[PMID 25348633OA-icon.png] Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

[PMID 25348631OA-icon.png] Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

[PMID 25155093] Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

[PMID 25113787OA-icon.png] Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

[PMID 24934289OA-icon.png] A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.