MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.8:c.493-2A>G |
| Allele registry ID | CA000478 |
| Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-63-A5MG-01A | 3616dbb4-b5d9-4e39-a0d4-ef4aeb64dfab_gdc_realn_rehead.bam | GDC/TCGA | TCGA-63-A5MG-01A_PTEN_CA000478.jpeg | hg38 |
