|
Gene Mutations
|
|
|
| Records Return:
(7)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | 2476C>T | | WERNER SYNDROME | 1 |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | ARG368TER | 0006 | WERNER SYNDROME | 4 |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | ARG889TER | | WERNER SYNDROME | 1 |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | CYS1367ARG | | WERNER SYNDROME | 1 |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | deletion of >15kb within IVS18 and IVS23 | | WERNER SYNDROME | 1 |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | IVS25DS, G>C, -1, FS1061TER | 0004 | WERNER SYNDROME | 1 |
| RECQL2 | 604611 | 277700 | 8p12-p11.2 | PHE1074LEU | | WERNER SYNDROME | 3 |
|
|
|