|
Gene Mutations
|
|
|
| Records Return:
(3)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| AGA | 613228 | 208400 | 4q34.3 | 133-BP DEL, NT807-940DEL, FS, TER | 0009 | ASPARTYLGLUCOSAMINURIA | 1 |
| AGA | 613228 | 208400 | 4q34.3 | ARG161GLN | | ASPARTYLGLUCOSAMINURIA, FINNISH TYPE | 3 |
| AGA | 613228 | 208400 | 4q34.3 | CYS163SER | 0001 | ASPARTYLGLUCOSAMINURIA, FINNISH TYPE | 3 |
|
|
|