Gene Mutations
|
|
Records Return:
(3)
|
|
|
|
Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
FANCC | 227645 | 227645 | 9q22.3 | 1-BP DEL, 322G | 0007 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | 1 |
FANCC | 227645 | 227645 | 9q22.3 | IVS,A>T,+4 | 0003 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | 4 |
FANCC | 227645 | 227645 | 9q22.3 | LEU554PRO | 0001 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | 2 |
|
|
|