Gene Mutations
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Records Return:
(13)
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Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
PAH | 261600 | 261600 | 12q24.1 | 23-BP DEL, NT590 (c.590_612del23) | | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | ARG176TER | | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | ARG252GLN | | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | ARG408GLN | 0038 | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | ARG408TRP | 0002 | PHENYLKETONURIA | 2 |
PAH | 261600 | 261600 | 12q24.1 | c.1068C>A (p.Tyr356*) | 0019 | Hyperphenylalaninemia, non-PKU mild | 1 |
PAH | 261600 | 261600 | 12q24.1 | IVS10-11G>A | | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | IVS12DS, G>A, +1 (c.1315+1 G>A) | 0001 | PHENYLKETONURIA | 2 |
PAH | 261600 | 261600 | 12q24.1 | IVS8+1G>A (c.912+1G>A) | | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | PHE299CYS | 0039 | PHENYLKETONURIA | 2 |
PAH | 261600 | 261600 | 12q24.1 | PHE39LEU | 0031 | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | PRO281LEU | 0012 | PHENYLKETONURIA | 1 |
PAH | 261600 | 261600 | 12q24.1 | TYR414CYS (c. 1241A>G) | 0017 | HYPERPHENYLALANINEMIA, NON-PKU | 1 |
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