Skip Navigation

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: R617C
cDNA Position: 1849 c→t (exon 10)
Disease Genetics Frequency Reference
Heterozygous with muscle weakness, exercise intolerance, hearing loss, arrhythmia (Wong et al., 2008)
PubMed
Back
to Top