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1 patient data entry in database for mutations N468D and T851A.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
351T851A1
N468D2
CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation,
-movement disorder (ataxia)
-PEO
-dysphagia
-dysarthria
childhood
n/a49n/aWoodbridge et al, 2012;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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