MutSpliceDB: a database of Splice Sites Variants
Gene | TSC2 |
Mutation | NM_000548.3:c.3285-3C>G |
Allele registry ID | CA913203375 |
Effect | Intron inclusion between exons 28 & 29 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-PN-A8MA-01A | 6581b23f-e09b-4285-83a1-4f59a543f021_gdc_realn_rehead.bam | GDC/TCGA | TCGA-PN-A8MA_TSC2_CA913203375.jpeg | hg38 |