MutSpliceDB: a database of Splice Sites Variants
| Gene | HEXA |
| Mutation | NM_000520.6:c.1421+5G>T |
| Allele registry ID | CA491115360 |
| Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-DF-A2KN-01A | 829c5a9a-cc8f-48f9-8a44-7abe9e57d67f.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-DF-A2KN-01A_HEXA_CA491115360.jpeg | hg38 |
