MutSpliceDB: a database of Splice Sites Variants
Gene | RB1 |
Mutation | NM_000321.2:c.1389+5G>C |
Allele registry ID | CA658655602 |
Effect | Exon 14 skipping |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
COR-L24 | G20460.COR-L24.2.bam (C836.COR-L24.1.bam) | GDC/CCLE | COR-L24_RB1_CA658655602.jpeg | hg19 | G20460.COR-L24.2_RB1_mini.zip | Open mini BAM in IGV |