MutSpliceDB: a database of Splice Sites Variants
Gene | CDKN2A |
Mutation | NM_000077.4:c.151-1G>A |
Allele registry ID | CA373086462 |
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 |
---|---|---|---|---|---|---|
MHH-ES-1 | G28610.MHH-ES-1.1.bam | GDC/CCLE | MHH-ES-1_CDKN2A_CA373086462.jpeg | hg19 | G28610.MHH-ES-1.1_CDKN2A_mini.zip | Open mini BAM in IGV |