MutSpliceDB: a database of Splice Sites Variants
| Gene | ECHS1 |
| Mutation | NM_004092.4:c.287-2A>G |
| Allele registry ID | CA378822093 |
| Effect | Intron inclusion between exons 2 & 3 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-52-7811-01A | 285c2788-1da0-4ad7-b98c-0d0619b627bd.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-52-7811-01A_ECHS1_CA378822093.jpeg | hg38 |
