POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R964C and A962T.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

216

R964C1

A962T1

Ataxia, muscle weakness, central hypoventilation. 119% mtDNA copy number in blood.

-	movement disorder (ataxia)

-	muscle weakness

juvenile

n/a

Tang et al, 2011;

[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:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

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