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2 patient data entries in database for mutations G11D,R627Q.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
625G11D
R627Q5
R852C1
Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant
-movement disorder (ataxia)
-ptosis
-PEO
-stroke
juvenile
1519n/aWong et al, 2008;

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628G11D
R627Q5
R852C1
Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans
-lactic acidosis
-movement disorder (ataxia)
-ptosis
-PEO
-stroke
juvenile
15n/an/aWong 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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 15.0
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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