MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC2 |
| Mutation | NM_000548.5:c.3132-1G>C |
| Allele registry ID | CA018622 |
| Effect | Intron inclusion between exons 27 & 28 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-99-8033-01A | 42722360-9f14-453c-851e-aadc068affcc_gdc_realn_rehead.bam | GDC/TCGA | TCGA-99-8033-01A_TSC2_CA018622.jpeg | hg38 |
