|
Gene Mutations
|
|
|
| Records Return:
(2)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| POMT1 | 607423 | 236670 | 9q34.1 | ARG622TER | | CONGENITAL MUSCULAR DYSTROPHY WITH DECREASED GLYCOSYLATED ALPHA-DYSTROGLYCAN | 1 |
| POMT1 | 607423 | 236670 | 9q34.1 | SER29ARG | | CONGENITAL MUSCULAR DYSTROPHY WITH DECREASED GLYCOSYLATED ALPHA-DYSTROGLYCAN | 1 |
|
|
|