MutSpliceDB: a database of Splice Sites Variants
Gene | NF2 |
Mutation | NM_000268.3:c.363+1G>A |
Allele registry ID | CA411153403 |
Effect | Intron inclusion between exons 3 & 4 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
NCI-H2286 | G25205.NCI-H2286.1.bam | GDC/CCLE | NCI-H2286_NF2_CA411153403.jpeg | hg19 | G25205.NCI-H2286.1_NF2_mini.zip | Open mini BAM in IGV |