| Variant ID | 556 |
|---|---|
| Entrez Gene ID | 7248 |
| Gene | TSC1 (GeneCards) |
| Location | hg19 9:135772900-135772900
hg38 9:132897513-132897513 |
| Disease | Tuberous sclerosis1 (view all the variants in this disease) |
| Method | DHPLC |
| Mutation(HGVS format) | NC_000009.11:g.135772900 C>G (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon nc | -1 |
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 2724 |
| Changes in cDNA | G > C |
| mRNA accession | NM_000368.4 |
| mRNA length | 3495 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.764 |
| CADD Raw score (version 1.3) | 7.144447 (Deleterious) |
| FATHMM raw prediction score | 0.99343 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.05 (Deleterious) |
| PROVEAN score | -5.17 (Deleterious) |
| MetaSVM score | 0.627 (Deleterious) |
| MetaLR score | 0.757 (Deleterious) |
| MCAP score | 0.309 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.68 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.82 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.98 |
| Deleterious probability by iFish2 | 0.3586 (Neutral) |
| Deleterious probability by DeFine | 0.9614 (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 | 11241845.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 11241845 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Tuberous sclerosis1 (view all the variants in this disease) |
| OMIM ID | 191100 |
| Pubmed ID | 11241845 |
|---|---|
| Title | Low level mosaicism detectable by DHPLC but not by direct sequencing |
| Journal | Human Mutation |
| Publication date | 2001.03 |
| Disease | Tuberous sclerosis1 |
| Number of cases | Male cases: 1; |