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2 patient data entries in database for mutations D1184N and T251I.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
421D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
childhood
9n/a33Amiot et al, 2009;

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422D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, fatty liver
-peripheral neuropathy
-PEO
childhood
9n/a30Amiot et al, 2009;

[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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 9.0
Std dev in onset in displayed cases: 0.0

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
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