| Individual ID | 20979189.01 |
|---|---|
| Pubmed ID | 20979189 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 2 |
| Age | 1.0 ~ 2.0 |
| Number of affected children | 2 ( male: 2; ) |
| Disease | Pseudohypoparathyroidism type1a(view all the variants in this disease) |
| OMIM ID | 103580 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 271 | 2778 | GNAS | 20 | 57484608 | 57484608 | Pseudohypoparathyroidism type1a | ABI3100 |