MutSpliceDB: a database of Splice Sites Variants
Gene | VHL |
Mutation | NM_000551.4:c.464-1G>C |
Allele registry ID | CA357081 |
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 |
---|---|---|---|---|---|---|
TCGA-B0-5095-01A | c8e5dfe5-6d32-4bcf-bd4f-5dd39abee350_gdc_realn_rehead.bam | GDC/TCGA | TCGA-B0-5095-01A_VHL_CA357081.jpeg | hg38 |