|
Gene Mutations
|
|
|
| Records Return:
(4)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CTH | 607657 | 219500 | 1p31.1 | 1 BP DEL, 1220C | 0002 | CYSTATHIONINURIA | 2 |
| CTH | 607657 | 219500 | 1p31.1 | 2 BP DEL, 940CT | 0001 | CYSTATHIONINURIA | 1 |
| CTH | 607657 | 219500 | 1p31.1 | GLN240GLU | 0004 | CYSTATHIONINURIA | 1 |
| CTH | 607657 | 219500 | 1p31.1 | THR67ILE | 0003 | CYSTATHIONINURIA | 6 |
|
|
|