Gene Mutations
|
|
Records Return:
(3)
|
|
|
|
Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
F5 | 227400 | 188055 | 1q23 | 20009404T>C | 0001 | THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN | 5 |
F5 | 227400 | 612309 | 1q23 | c.1601G>A | | THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN | 1 |
F5 | 227400 | 188055 | 1q23 | HIS1299ARG | | THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN | 1 |
|
|
|