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1 patient data entry in database for mutations G737R and S64L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
20G737R5
S64L
R232H4
Peripheral neuropathy, tremor, ataxia.
-movement disorder (ataxia)
-peripheral neuropathy
-tremor
childhood
10n/an/aHarrower et al, 2008;

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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:
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Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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