MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.7:c.1026+1G>A |
| Allele registry ID | CA000103 |
| Effect | Intron inclusion between exons 8 & 9, and loss of exon 9 expression |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-BG-A0MK-01A | 2f384c9c-6d0b-4b21-8b71-f7fce3896fa5_gdc_realn_rehead.bam | GDC/TCGA | TCGA-BG-A0MK-01A_PTEN_CA000103.jpeg | hg38 |
