POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations G848S and G848S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

185

G848S1

G848S1

Seizures, SIDS/unexplained death, MRS/lactate peak, abnormal MRI, abnormal respiratory enzymes. 7% mtDNA copy number in muscle.

-	no known symptoms

childhood

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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