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 |
UGT1A1 | 191740 | 218800 | 2q37 | 13-BP DEL, EX2 | 0001 | CRIGLER-NAJJAR SYNDROME, TYPE I | 1 |
UGT1A1 | 191740 | 191740 | 2q37 | 5 TA Repeats | | | 5 |
UGT1A1 | 191740 | 191740 | 2q37 | 6 TA Repeats | | | 9 |
UGT1A1 | 191740 | 143500 | 2q37 | 7 TA Repeats | 0011 | GILBERT SYNDROME | 8 |
UGT1A1 | 191740 | 191740 | 2q37 | 8 TA Repeats | | | 5 |
UGT1A1 | 191740 | 218800 | 2q37 | SER376PHE | 0002 | CRIGLER-NAJJAR SYNDROME, TYPE I | 2 |
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