MutSpliceDB: a database of Splice Sites Variants
Gene | PTEN |
Mutation | NM_000314.8:c.801+1G>T |
Allele registry ID | CA377485117 |
Effect | Intron inclusion between exons 7 & 8 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-85-A50Z-01A | 3f02b1cb-9231-4bcc-a1cd-ce39285b1369_gdc_realn_rehead.bam | GDC/TCGA | TCGA-85-A50Z-01A_PTEN_CA377485117.jpeg | hg38 |