MutSpliceDB: a database of Splice Sites Variants
Gene | VHL |
Mutation | NM_000551.3:c.463+2T>C |
Allele registry ID | CA16621936 |
Effect | Intron inclusion between exons 2 & 3 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
VMRC-RCZ | G30576.VMRC-RCZ.1.bam | GDC/CCLE | VMRC-RCZ_VHL_CA16621936.jpeg | hg19 | G30576.VMRC-RCZ.1_VHL_mini.zip | Open mini BAM in IGV |