MutSpliceDB: a database of Splice Sites Variants
Gene | ATM |
Mutation | NM_000051.3:c.2922-2A>T |
Allele registry ID | CA382547055 |
Effect | Intron inclusion between exons 19 & 20 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
GRANTA-519 | G27335.GRANTA-519.1.bam | GDC/CCLE | GRANTA-519_ATM_CA382547055.jpeg | hg19 | G27335.GRANTA-519.1_ATM_mini.zip | Open mini BAM in IGV |