MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.7:c.1026+2T>G |
| Allele registry ID | CA377486192 |
| 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-N5-A4RF-01A | b71af913-2d1c-4f56-91f7-ab2b267dc2d0_gdc_realn_rehead.bam | GDC/TCGA | TCGA-N5-A4RF-01A_PTEN_CA377486192.jpeg | hg38 |
