MutSpliceDB: a database of Splice Sites Variants
Gene | RB1 |
Mutation | NM_000321.3:c.1215+1G>T |
Allele registry ID | CA388161720 |
Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-44-7669-01A | e0b53534-5cb2-47aa-9307-038b5774047f_gdc_realn_rehead.bam | GDC/TCGA | TCGA-44-7669-01A_RB1_CA388161720.jpeg | hg38 |