Home Query References Browse Contact

1 patient data entry collated from reference Harrower et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
20G737R5
R232H4
S64L
Peripheral neuropathy, tremor, ataxia.
-movement disorder (ataxia)
-peripheral neuropathy
-tremor
childhood
n/a10n/a

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.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Reference:

References in full format are accessible through the references page.

:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: