MutSpliceDB: a database of Splice Sites Variants
| Gene | RB1 |
| Mutation | NM_000321.3:c.1814+2T>A |
| Allele registry ID | CA388165677 |
| Effect | Intron inclusion between exons 18 & 19 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-44-7660-01A | 96c55f10-fe83-4c4a-96ca-9884249e1c5d_gdc_realn_rehead.bam | GDC/TCGA | TCGA-44-7660-01A_RB1_CA388165677.jpeg | hg38 |
