MutSpliceDB: a database of Splice Sites Variants
| Gene | NGLY1 |
| Mutation | NM_018297.4:c.659-1G>A |
| Allele registry ID | CA351904711 |
| 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-2W-A8YY-01A | 69fdc3a5-bf2d-4301-af3e-e58c2a3f139e.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-2W-A8YY-01A_NGYL1_CA351904711.jpeg | hg38 |
