MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC1 |
| Mutation | NM_000368.4:c.1264-1G>A |
| Allele registry ID | CA375366235 |
| Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-FD-A6TI-01A | 71322957-ab27-40c2-bf67-b6ee8ace7799_gdc_realn_rehead.bam | GDC/TCGA | TCGA-FD-A6TI-01A_TSC1_CA375366235.jpeg | hg38 |
