|
Gene Mutations
|
|
|
| Records Return:
(2)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| AP3B1 | 603401 | 608233 | Chromosome 5 | ARG509TER | | HERMANSKY-PUDLAK SYNDROME 2 | 1 |
| AP3B1 | 603401 | 608233 | Chromosome 5 | GLU659TER | | HERMANSKY-PUDLAK SYNDROME 2 | 1 |
|
|
|