MutSpliceDB: a database of Splice Sites Variants
| Gene | HEXA |
| Mutation | NM_000520.6:c.1073+3G>C |
| Allele registry ID | CA2186744415 |
| 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-IR-A3LK-01A | 9d1d8d08-c99f-490a-a1cb-836710cf7f46.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-IR-A3LK-01A_HEXA_CA2186744415.jpeg | hg38 |
