MutSpliceDB: a database of Splice Sites Variants
Gene | RB1 |
Mutation | NM_000321.2:c.2211+5G>T |
Allele registry ID | CA658760346 |
Effect | Exon 21 skipping |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
NCI-H1436 | G25223.NCI-H1436.1.bam (C836.NCI-H1436.3.bam) | GDC/CCLE | NCI-H1436_RB1_CA658760346.jpeg | hg19 | G25223.NCI-H1436.1_RB1_mini.zip | Open mini BAM in IGV |