Gene Mutations
|
|
Records Return:
(6)
|
|
|
|
Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
NF2 | 607379 | 101000 | 22q12.2 | 1026_1027delAG | | NEUROFIBROMATOSIS, TYPE 2 | 1 |
NF2 | 607379 | 101000 | 22q12.2 | 1539A>G | | NEUROFIBROMATOSIS, TYPE 2 | 1 |
NF2 | 607379 | 101000 | 22q12.2 | 1625T>A | | NEUROFIBROMATOSIS, TYPE 2 | 1 |
NF2 | 607379 | 101000 | 22q12.2 | 476delA | | NEUROFIBROMATOSIS, TYPE 2 | 1 |
NF2 | 607379 | 101000 | 22q12.2 | NF2 GENE DELETION | | NEUROFIBROMATOSIS, TYPE 2 | 1 |
NF2 | 607379 | 101000 | 22q12.2 | PHE96DEL | 0007 | NEUROFIBROMATOSIS, TYPE 2 | 1 |
|
|
|