MutSpliceDB: a database of Splice Sites Variants
Gene | PPP2R1A |
Mutation | NM_014225.6:c.78+2T>C |
Allele registry ID | CA407178686 |
Effect | Intron inclusion between exons 1 & 2 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-FI-A3PX-01A | 2ea070ae-18f4-4143-be3a-1e3eaf702b6d_gdc_realn_rehead.bam | GDC/TCGA | TCGA-FI-A3PX-01A_PPP2R1A_CA407178686.jpeg | hg38 |