Gene Mutations
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Records Return:
(4)
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Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
EIF2B2 | 606454 | 603896 | 14q24 | 6-BP DEL/2-BP INS, NT607 | 0005 | OVARIOLEUKODYSTROPHY | 1 |
EIF2B2 | 606454 | 603896 | 14q24 | GLU213GLY | 0001 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER | 2 |
EIF2B2 | 606454 | 603896 | 14q24 | GLU304TER | | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER | 2 |
EIF2B2 | 606454 | 603896 | 14q24 | SER171PHE | 0004 | OVARIOLEUKODYSTROPHY | 1 |
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