| Individual ID | 28261977.01 |
|---|---|
| Pubmed ID | 28261977 |
| Whose mosaic mutation | Female Patient |
| Phenotypic Category | 2 |
| Age | 24.0 ~ 24.0 |
| Disease | OI/EDS Combined Syndrome(view all the variants in this disease) |
| OMIM ID | 120150 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 34684 | 1277 | COL1A1 | 17 | 48265940 | 48265948 | OI/EDS Combined Syndrome | Sanger Sequencing Target NGS Sequencing |