Gene Mutations
|
|
Records Return:
(6)
|
|
|
|
Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
TYR | 606933 | 203100 | 11q14-q21 | 1-BP INS, T, CODON 389 | | ALBINISM, OCULOCUTANEOUS, TYPE IA | 1 |
TYR | 606933 | 203100 | 11q14-q21 | ARG217TRP | 0025 | ALBINISM, OCULOCUTANEOUS, TYPE IA | 1 |
TYR | 606933 | 203100 | 11q14-q21 | ASN382LYS | 0016 | ALBINISM, OCULOCUTANEOUS, TYPE IA | 1 |
TYR | 606933 | 203100 | 11q14-q21 | ASP365ASN | 0004 | ALBINISM, OCULOCUTANEOUS, TYPE IA | 1 |
TYR | 606933 | 203100 | 11q14-q21 | PRO81LEU | 0002 | ALBINISM, OCULOCUTANEOUS, TYPE IA | 2 |
TYR | 606933 | 203100 | 11q14-q21 | THR373LYS | | ALBINISM, OCULOCUTANEOUS, TYPE IA | 1 |
|
|
|