MutSpliceDB: a database of Splice Sites Variants
Gene | PALB2 |
Mutation | NM_024675.3:c.2514+2T>C |
Allele registry ID | CA395123908 |
Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
Reh | G27250.Reh.1.bam | GDC/CCLE | REH_PALB2_CA395123908.jpeg | hg19 | G27250.Reh.1_PALB2_mini.zip | Open mini BAM in IGV |