|
Gene Mutations
|
|
|
| Records Return:
(4)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ERCC4 | 133520 | 278760 | 16p13.3-p13.13 | 1937delT | | XERODERMA PIGMENTOSUM, TYPE F | 1 |
| ERCC4 | 133520 | 278760 | 16p13.3-p13.13 | ARG479GLN | | XERODERMA PIGMENTOSUM, TYPE F | 1 |
| ERCC4 | 133520 | 278760 | 16p13.3-p13.13 | LEU599PRO | | XERODERMA PIGMENTOSUM, TYPE F | 1 |
| ERCC4 | 133520 | 278760 | 16p13.3-p13.13 | THR556ALA | | XERODERMA PIGMENTOSUM, TYPE F | 1 |
|
|
|