MutSpliceDB: a database of Splice Sites Variants
Gene | HEXA |
Mutation | NM_000520.6:c.1073+1G>A |
Allele registry ID | CA221064 |
Effect | Intron inclusion between exons 9 & 10 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-J8-A3O0-01A | 92ab457d-b117-4c90-a415-b868c46f3bed.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-J8-A3O0-01A_HEXA_CA221064.jpeg | hg38 |