POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation D136E.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

D136E1

Q45R

Epilepsy. Father was heterozygous Q45R and epileptic, Mother was heterozygous D136E and had no symptoms.

epilepsy

childhood

n/a

Blok 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.

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