| Variant ID | 1569 |
|---|---|
| Entrez Gene ID | 7249 |
| Gene | TSC2 (GeneCards) |
| Location | hg19 16:2122880-2122880
hg38 16:2072879-2072879 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000016.9:g.2122880 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 21 |
| Position in protein | 751 |
| Amino acid changes in protein | R > * |
| Position in cDNA | 2251 |
| Changes in cDNA | C > T |
| mRNA accession | NM_000548.3 |
| mRNA length | 5751 |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs45517222 |
| EIGEN score | 0.7414 |
| CADD Raw score (version 1.3) | 12.108598 (Deleterious) |
| FATHMM raw prediction score | 0.97323 (Tolerated) |
| LRT score | 0.044 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.927 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.858 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.83 |
| Deleterious probability by DeFine | 0.947 (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 | 29281825.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29281825 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| OMIM ID | 607341 |
| Pubmed ID | 29281825 |
|---|---|
| Title | Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. |
| Journal | Cell Reports |
| Publication date | 2017.12 |
| Disease | Hemimegalencephaly;Focal Cortical Dysplasias |
| Number of cases | Male cases: 7; Female cases: 7; |