Gene Mutations
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Records Return:
(5)
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Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
SOD1 | 147450 | 147450 | 21q22.11 | ALA4VAL | 0012 | AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL | 4 |
SOD1 | 147450 | 147450 | 21q22.11 | ASP90ALA | 0015 | AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, AUTOSOMAL RECESSIVE | 1 |
SOD1 | 147450 | 147450 | 21q22.11 | ASP91ALA | 0015 | AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, AUTOSOMAL RECESSIVE | 1 |
SOD1 | 147450 | 147450 | 21q22.11 | GLU100GLY | 0009 | AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL | 1 |
SOD1 | 147450 | 147450 | 21q22.11 | ILE113THR | 0011 | AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL | 1 |
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