MutSpliceDB: a database of Splice Sites Variants
| Gene | ACADVL |
| Mutation | NM_000018.4:c.343-1G>A |
| Allele registry ID | CA312290 |
| Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-04-1341-01A | 6bc01daa-5c11-4c87-916f-09e6fec65c5a.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-04-1341-01A_ACADVL_CA312290.jpeg | hg38 |
