| Individual ID | 19449424.01 |
|---|---|
| Pubmed ID | 19449424 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 2 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Marshall syndrome(view all the variants in this disease) |
| OMIM ID | 154780 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 333 | 1301 | COL11A1 | 1 | 103467983 | 103467983 | Marshall syndrome | ABI3730 |