MutSpliceDB: a database of Splice Sites Variants
Gene | VPS13B |
Mutation | NM_152564.5:c.7247+2T>C |
Allele registry ID | CA371874664 |
Effect | Intron inclusion between exons 40 & 41 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-AA-3713-01A | 0c5e45df-149d-4667-8154-312c5e6f246b.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-AA-3713-01A_VPS13B_.CA371874664.jpeg | hg38 |