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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PMM2 | 601785 | 601785 | 16p13.3-p13.2 | ARG141HIS | 0001 | CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia | 4 |
| PMM2 | 601785 | 212065 | 16p13.3-p13.2 | c.422G>A (p.R141H) | 0001 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | 1 |
| PMM2 | 601785 | 212065 | 16p13.3-p13.2 | LEU32ARG | 0016 | CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia | 1 |
| PMM2 | 601785 | 601785 | 16p13.3-p13.2 | PHE119LEU | 0006 | CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia | 1 |
| PMM2 | 601785 | 212065 | 16p13.3-p13.2 | PHE157SER | | CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia | 1 |
| PMM2 | 601785 | 212065 | 16p13.3-p13.2 | PRO113THR | | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | 1 |
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