MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC2 |
| Mutation | NM_000548.5:c.1119+2T>C |
| Allele registry ID | CA394318502 |
| Effect | Intron inclusion between exons 11 & 12 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-XK-AAIW | c61f5b76-f540-45c1-9d26-535c43bc821e_gdc_realn_rehead.bam | GDC/TCGA | TCGA-XK-AAIW_TSC2_CA394318502.jpeg | hg38 |
