MutSpliceDB: a database of Splice Sites Variants
Gene | VHL |
Mutation | NM_000551.4:c.340+1G>C |
Allele registry ID | CA020282 |
Effect | Potential intron inclusion between exons 1 & 2 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-A3-3376-01A | 1e2a58d2-411f-4f24-812d-5e58483f61a3.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-A3-3376-01A_VHL_CA020282.jpeg | hg38 |