MutSpliceDB: a database of Splice Sites Variants
Gene | PTEN |
Mutation | NM_000314.8:c.210-2A>G |
Allele registry ID | CA377481223 |
Effect | Intron inclusion between exons 3 & 4 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-EB-A44P-01A | 22bf1ad3-8fdd-440c-940f-5d2057d76fb8_gdc_realn_rehead.bam | GDC/TCGA | TCGA-EB-A44P-01A_PTEN_CA377481223.jpeg | hg38 |