MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC2 |
| Mutation | NM_000548.5:c.1716+1G>T |
| Allele registry ID | CA394270767 |
| Effect | Intron inclusion between exons 16 & 17 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-55-7907-01A | 088964d1-025c-4080-9cc9-11a233abcd7f_gdc_realn_rehead.bam | GDC/TCGA | TCGA-55-7907-01A_TSC2_CA394270767.jpeg | hg38 |
