Table 2.
Genes associated with TSC
| Gene name | TSC1 | TSC2 |
| OMIM entry | 605284 | 191092 |
| Protein name | Hamartin | Tuberin |
| Cytogenetic location | 9q34.13 | 16p13.3 |
| Most common types of mutations | Frameshift/protein truncation > nonsense | Frameshift/protein truncation = deletion/insertion/duplication = nonsense mutation |
| Number of unique variants reporteda | 847 | 2,395 |
Note:
a
As of April 2016 in the Leiden Open Variation Database.
Abbreviations: TSC, tuberous sclerosis complex; OMIM, Online Mendelian Inheritance in Man.