MutSpliceDB: a database of Splice Sites Variants
Gene | VHL |
Mutation | NM_000551.4:c.464-1G>T |
Allele registry ID | CA357144 |
Effect | Potential 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-B0-5113-01A | 933f8daa-9246-46b6-a568-6391ae0259e0.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-B0-5113-01A_VHL_CA357144.jpeg | hg38 |