POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation E895G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

196

E895G1

Found in one newborn with floppiness and 20% liver mtDNA depletion- Myopathic MDS. Death at 36 hours after birth. 5% mtDNA copy number in muscle, 20% mtDNA copy number in liver.

-	no known symptoms

infantile

0.01

n/a

0.02

Spinazzola 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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