MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC2 |
| Mutation | NM_000548.5:c.3610+1G>C |
| Allele registry ID | CA394289761 |
| Effect | Intron inclusion between exons 30 & 31 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-T7-A92I-01A | 4ac4b186-1d66-44ff-afd0-00752c538223_gdc_realn_rehead.bam | GDC/TCGA | TCGA-T7-A92I-01A_TSC2_CA394289761.jpeg | hg38 |
