Home Query References Browse Contact

1 patient data entry in database for mutations R232H and G737R.

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;

[view data]

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
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: