|
Gene Mutations
|
|
|
| Records Return:
(13)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CYP2D6 | 124030 | 124030 | 22q13.1 | 1-BP DEL, 1707T | 0003 | DEBRISOQUINE, POOR METABOLISM OF | 1 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | 1-BP DEL, 2549A | 0006 | DEBRISOQUINE, POOR METABOLISM OF | 1 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | 2613_2615delAGA | | DEBRISOQUINE, POOR METABOLISM OF | 4 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | 2850C>T | | DEBRISOQUINE, NORMAL METABOLISM OF | 1 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | ARG296CYS AND SER486THR | | DEBRISOQUINE, ULTRARAPID METABOLISM OF | 6 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | ARG296CYS AND SER486THR | 0007 | DEBRISOQUINE, ULTRARAPID METABOLISM OF | 3 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | DEL | 0002 | DEBRISOQUINE, POOR METABOLISM OF | 5 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | DUP | 0008 | CODEINE, ULTRARAPID METABOLISM OF | 2 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | IVSDS3, G>A, +1 | 0001 | DEBRISOQUINE, POOR METABOLISM OF | 37 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | PRO34SER | 0005 | DEBRISOQUINE, POOR METABOLISM OF | 5 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | THR107ILE, ARG296CYS, AND SER486THR | | DEBRISOQUINE, POOR METABOLISM OF | 4 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | VAL11MET,ARG296CYS,SER486THR | | DEBRISOQUINE, ULTRARAPID METABOLISM OF | 2 |
| CYP2D6 | 124030 | 124030 | 22q13.1 | VAL136MET,ARG296CYS,VAL338MET,SER486THR | | DEBRISOQUINE, ULTRARAPID METABOLISM OF | 1 |
|
|
|