MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.6:c.635-2A>C |
| Allele registry ID | CA377484744 |
| Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| JHUEM-2 | G28078.JHUEM-2.1.bam | GDC/CCLE | JHUEM-2_PTEN_CA377484744.jpeg | hg19 | G28078.JHUEM-2.1_PTEN_mini.zip | Open mini BAM in IGV |
