Gene Mutations
|
|
Records Return:
(4)
|
|
|
|
Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
ACADS | 606885 | 201470 | 12q22-qter | ARG107CYS | 0002 | SCAD DEFICIENCY | 1 |
ACADS | 606885 | 201470 | 12q22-qter | ARG147TRP | 0006 | SCAD DEFICIENCY | 2 |
ACADS | 606885 | 201470 | 12q22-qter | ARG171TRP | | SCAD DEFICIENCY | 1 |
ACADS | 606885 | 201470 | 12q22-qter | GLY185SER | 0007 | SCAD DEFICIENCY | 2 |
|
|
|