| Variant ID | 13383 |
|---|---|
| Entrez Gene ID | 7248 |
| Gene | TSC1 (GeneCards) |
| Location | hg19 9:135812999-135812999
hg38 9:132937612-132937612 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.135812999 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1278 |
| CADD Raw score (version 1.3) | 0.461965 (Deleterious) |
| FATHMM raw prediction score | 0.16342 (Tolerated) |
| Deleterious probability by DeFine | 0.675 (Deleterious) |
| Entrez Gene ID | 7248 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSC1 (GeneCards) |
| Number of variants in TSC1 in this database | 6 (view all the variants) |
| Full name | TSC complex subunit 1 |
| Band | 9q34.13 |
| Other IDs | Vega: OTTHUMG00000020844 OMIM: 605284 HGNC: HGNC:12362 Ensembl: ENSG00000165699 |
| Other names | LAM, TSC |
| Summary | This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |