POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation S1080T.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

705

S1080T3

almost lifelong action tremor, peripheral neuropathy, progressive sensorineural hearing loss, and a strong family history of tremor. CT of the brain was notable for extensive intracranial calcifications.

-	peripheral neuropathy

tremor

-	hearing loss

adult

n/a

Sidiropoulos et al, 2013;

[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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Allele 1:	Allele 2:

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

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