MutSpliceDB: a database of Splice Sites Variants
| Gene | NF1 |
| Mutation | NM_001042492.3:c.7063-1G>A |
| Allele registry ID | CA399015496 |
| Effect | Intron inclusion between exons 47 & 48 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-W3-AA1V-06B | 7cb5d1cd-9b1a-45ce-8af1-3f935435ff28_gdc_realn_rehead.bam | GDC/TCGA | TCGA-W3-AA1V-06B_NF1_CA399015496.jpeg | hg38 |
