| Variant ID | 34664 |
|---|---|
| Entrez Gene ID | 7249 |
| Gene | TSC2 (GeneCards) |
| Location | hg19 16:2127477-2127477
hg38 16:2077476-2077476 |
| Disease | Tuberous sclerosis complex (view all the variants in this disease) |
| Method | Sanger Sequencing |
| Mutation(HGVS format) | NC_000016.9:g.2127477 G>A (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon number | 25 |
| Exon nc | -122 |
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 2838-122 |
| Changes in cDNA | G > A |
| mRNA accession | NM_000548.3 |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.8355 |
| CADD Raw score (version 1.3) | 0.34177 (Deleterious) |
| FATHMM raw prediction score | 0.9814 (Tolerated) |
| Deleterious probability by DeFine | 0.9276 (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 | 25927202.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25927202 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Tuberous sclerosis complex (view all the variants in this disease) |
| OMIM ID | 613254 |
| Pubmed ID | 25927202 |
|---|---|
| Title | Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations |
| Journal | BMC Medical Genetics |
| Publication date | 2015.02 |
| Disease | Tuberous sclerosis complex |
| Number of cases | cases of unknown sex: 2; |