Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Your Environment. Your Health.

Human DNA Polymerase Gamma Mutation Database

Search

All inquiries, additions to the list, and comments should be made to Bill Copeland.

To search for multiple exons, hold <Ctrl> while selecting multiple options.


Amino Acid Substitution: G746S
cDNA Position: 2236 g→a (exon 13)
Disease Genetics Frequency Reference
Ataxia, PEO ar, Found in cis w/ E1143G, and in trans G848S 1in 454 alleles (Stewart et al., 2009)
PubMed
PEO Found in trans w/G848S in a 36 y.o. male with PEO, peripheral neuropathy, and ataxia (Lax et al., 2012a)
PubMed
Back
to Top