POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations G517V and D1196N.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

134

D1196N1

G517V2

Onset at 1 years with myopathy, developmental delay/ dementia, RRF, and elevated CK. Authors reported as undiagnosed.

myopathy

-	developmental delay

dementia

infantile

n/a

Wong 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.

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Reference:

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Allele 1:	Allele 2:

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