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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PMP22 | 601097 | 118220 | 17p11.2 | DUP (17p) | 0001 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A | 7 |
| PMP22 | 601097 | 162500 | 17p11.2 | EX1-5DEL | | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES | 1 |
| PMP22 | 601097 | 145900 | 17p11.2 | HIS12ARG | | DEJERINE-SOTTAS SYNDROME | 1 |
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