| Variant ID | 552 |
|---|---|
| Entrez Gene ID | 7249 |
| Gene | TSC2 (GeneCards) |
| Location | hg19 16:2136812-2136812
hg38 16:2086811-2086811 |
| Disease | Tuberous sclerosis2 (view all the variants in this disease) |
| Method | DHPLC |
| Mutation(HGVS format) | NC_000016.9:g.2136812 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1643 |
| Amino acid changes in protein | N > K |
| Position in cDNA | 4929 |
| Changes in cDNA | C > G |
| mRNA accession | NM_000548.3 |
| mRNA length | 5424 |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.8919 (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 | 12062115.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 12062115 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Tuberous sclerosis2 (view all the variants in this disease) |
| OMIM ID | 613254 |
| Pubmed ID | 12062115 |
|---|---|
| Title | Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2 |
| Journal | Journal of Biomedical and Biophysical Methods |
| Publication date | 2002.04 |
| Disease | Tuberous sclerosis2 |
| Number of cases | cases of unknown sex: 1; |