MutSpliceDB: a database of Splice Sites Variants
Gene | SMARCB1 |
Mutation | NM_003073.3:c.500+1G>A |
Allele registry ID | CA410934606 |
Effect | Intron inclusion between exons 4 & 5 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
253J | G27296.253J.1.bam | GDC/CCLE | 253J_SMARCB1_CA410934606.jpeg | hg19 | G27296.253J.1_SMARCB1_mini.zip | Open mini BAM in IGV |