MutSpliceDB: a database of Splice Sites Variants
Gene | CDKN2A |
Mutation | NM_000077.4:c.457+1G>T |
Allele registry ID | CA373085804 |
Effect | Intron inclusion between exons 2 & 3, or skipping end of exon 2 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
NCI-H661 | G25212.NCI-H661.1.bam | GDC/CCLE | NCI-H661_CDKN2A_CA373085804.jpeg | hg19 | G25212.NCI-H661.1_CDKN2A_mini.zip | Open mini BAM in IGV |