| Variant ID | 34663 |
|---|---|
| Entrez Gene ID | 7249 |
| Gene | TSC2 (GeneCards) |
| Location | hg19 16:2129165-2129165
hg38 16:2079164-2079164 |
| Disease | Tuberous sclerosis complex (view all the variants in this disease) |
| Method | Sanger Sequencing |
| Mutation(HGVS format) | NC_000016.9:g.2129165 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 16 |
| Position in protein | 1033 |
| Amino acid changes in protein | Y > * |
| Position in cDNA | 3099 |
| Changes in cDNA | C > G |
| mRNA accession | NM_000548.3 |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs45464800 |
| EIGEN score | -0.1602 |
| CADD Raw score (version 1.3) | 9.820423 (Deleterious) |
| FATHMM raw prediction score | 0.97033 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -3.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.394 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.02 |
| Deleterious probability by DeFine | 0.7561 (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 | 25927202.01 (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; |