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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| POLG | 174763 | 203700 | 15q25 | ALA467THR | 0002 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | 1 |
| POLG | 174763 | 203700 | 15q25 | ARG1081TER | | ALPERS SYNDROME | 1 |
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