MutSpliceDB: a database of Splice Sites Variants
| Gene | NF1 |
| Mutation | NM_000267.3:c.4269+2T>C |
| Allele registry ID | CA334574 |
| Effect | Intron inclusion between exons 31 & 32 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| EN | G27326.EN.1.bam | GDC/CCLE | EN_NF1_CA334574.jpeg | hg19 | G27326.EN.1_NF1_mini.zip | Open mini BAM in IGV |
