Individual ID | 29446767.01 |
---|---|
Pubmed ID | 29446767 |
Whose mosaic mutation | Female Patient |
Phenotypic Category | 3 |
Age | 4.0 ~ 4.0 |
Disease | Macrodactyly(view all the variants in this disease) |
OMIM ID | 155500 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1508 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | Macrodactyly | ABI Prism 7000 |