MutSpliceDB: a database of Splice Sites Variants
Gene | PTEN |
Mutation | NM_000314.5:c.635-3C>A |
Allele registry ID | CA913203442 |
Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-28-2509-01A | 2500fa8f-39af-4b46-8a8f-2147f7ddce56_gdc_realn_rehead.bam | GDC/TCGA | TCGA-28-2509_PTEN_CA913203442.jpeg | hg38 |