MutSpliceDB: a database of Splice Sites Variants
Gene | RB1 |
Mutation | NM_000321.3:c.2489+1G>C |
Allele registry ID | CA10605763 |
Effect | Intron inclusion between exons 23 & 24 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-O2-A5IB-01A | 373c7ff8-aa0b-412e-9600-4f2cde00992d_gdc_realn_rehead.bam | GDC/TCGA | TCGA-O2-A5IB-01A_RB1_CA10605763.jpeg | hg38 |