| Variant ID | 1568 |
|---|---|
| Entrez Gene ID | 7249 |
| Gene | TSC2 (GeneCards) |
| Location | hg19 16:2135300-2135300
hg38 16:2085299-2085299 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| Method | HiSeq 2500 MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.2135300_2135300 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1547 |
| Amino acid changes in protein | V > I |
| Position in cDNA | 4639 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001318831.1 |
| mRNA length | 5245 |
| Reference length | 90354753 |
| Deleterious probability by DeFine | 0.9262 (Deleterious) |
|---|
| Entrez Gene ID | 7249 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSC2 (GeneCards) |
| Number of variants in TSC2 in this database | 6 (view all the variants) |
| Full name | TSC complex subunit 2 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000128745 OMIM: 191092 HGNC: HGNC:12363 Ensembl: ENSG00000103197 |
| Other names | LAM, TSC4, PPP1R160 |
| Summary | Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28215400.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28215400 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| OMIM ID | 607341 |
| Pubmed ID | 28215400 |
|---|---|
| Title | Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.03 |
| Disease | Focal Cortical Dysplasias |
| Number of cases | Male cases: 1; Female cases: 4; |