MutSpliceDB: a database of Splice Sites Variants
| Gene | BRCA1 |
| Mutation | NM_007297.3:c.5136+1G>A |
| Allele registry ID | CA003419 |
| Effect | Intron inclusion between exons 18 & 19 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| MDA-MB-436 | G28087.MDA-MB-436.1.bam | GDC/CCLE | MDA-MB-436_BRCA1_CA003419.jpeg | hg19 | G28087.MDA-MB-436.1_BRCA1_mini.zip | Open mini BAM in IGV |
