MutSpliceDB: a database of Splice Sites Variants
| Gene | ACADVL |
| Mutation | NM_000018.3:c.1270-1G>A |
| Allele registry ID | CA397724740 |
| 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-CR-7368-01A | 35c312a3-b0b7-4f73-82c6-0e110c1e8f44.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-CR-7368-01A_ACADVL_CA397724740.jpeg | hg38 |
