MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC1 |
| Mutation | NM_000368.4:c.1263+4C>T |
| Allele registry ID | CA658657921 |
| 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-BR-4256-01A | 38575ab1-ecd3-482e-a19a-92a8a711d425_gdc_realn_rehead.bam | GDC/TCGA | TCGA-BR-4256_TSC1_CA658657921.jpeg | hg38 |
