POLG Pathogenicity Prediction Server

1 patient data entry in database for the exact mutation E1143G.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

268

E1143G

Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Also had Histiocytosis and breast cancer

-	parkinson's disease

tremor

adult

n/a

Luoma et al, 2007;

[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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