MutSpliceDB: a database of Splice Sites Variants
| Gene | NF1 |
| Mutation | NM_001042492.3:c.1392+1G>T |
| Allele registry ID | CA398999963 |
| Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-34-8455-01A | 2b0bbb60-f767-471d-8d66-7b5621dde5e4_gdc_realn_rehead.bam | GDC/TCGA | TCGA-34-8455-01A_NF1_CA398999963.jpeg | hg38 |
