MutSpliceDB: a database of Splice Sites Variants
| Gene | ACADVL |
| Mutation | NM_000018.4:c.277+2T>C |
| Allele registry ID | CA397722483 |
| Effect | Intron inclusion between exons 4 & 5 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-G4-6586-01A | 213f702a-56fd-4ab0-940c-a71e4e01b6f8.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-G4-6586-01A_ACADVL_CA397722483.jpeg | hg38 |
