MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.6:c.1026+1G>C |
| Allele registry ID | CA000253 |
| 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-EE-A2GU-06A | ef9f6f1a-53bb-4dbc-8a92-c5a06d62a180_gdc_realn_rehead.bam | GDC/TCGA | TCGA-EE-A2GU-06A_PTEN_CA000253.jpeg | hg38 |
