Tuberous Sclerosis Explore Disorder's Alias
An Autosomal dominant mode(s) within the Tumor/Cancer category
Candidate Gene Information
An Autosomal dominant mode(s) within the Tumor/Cancer category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | TSC1/7248 | TSC complex subunit 1 | 9q34.13 | Chr9, NC_000009.12 (132891349..132945378, complement) |
54030 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TSC2/7249 | TSC complex subunit 2 | 16p13.3 | Chr16, NC_000016.10 (2047985..2089491) |
41507 nt | 45 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SERPINC1/462 | serpin family C member 1 | 1q25.1 | Chr1, NC_000001.11 (173903800..173917327, complement) |
13528 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |