MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.8:c.1026G>A |
| Allele registry ID | CA470973807 |
| 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-DU-A7TD-01A | f13b7ef9-16d4-40b0-91c0-72b9b8ef1876.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-DU-A7TD-01A_PTEN_CA470973807.jpeg | hg38 |
