MutSpliceDB: a database of Splice Sites Variants
| Gene | ECHS1 |
| Mutation | NM_004092.4:c.515-1G>T |
| Allele registry ID | CA378819706 |
| 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-86-8281-01A | 3e5fa22c-f02a-4da4-881c-6aa2869058c1.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-86-8281-01A_ECHS1_CA378819706.jpeg | hg38 |
