MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC1 |
| Mutation | NM_000368.4:c.508+1G>T |
| Allele registry ID | CA375373089 |
| Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| NCI-H1793 | G28584.NCI-H1793.1.bam | GDC/CCLE | NCI-H1793_TSC1_CA375373089.jpeg | hg19 | G28584.NCI-H1793.1_TSC1_mini.zip | Open mini BAM in IGV |
