MutSpliceDB: a database of Splice Sites Variants
| Gene | NF1 |
| Mutation | NM_001042492.3:c.7063-2A>G |
| Allele registry ID | CA399015494 |
| 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-22-5472-01A | 3b9e1cd6-7b59-4a05-a896-9789b317741c.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-22-5472-01A_NF1_CA399015494.jpeg | hg38 |
