MutSpliceDB: a database of Splice Sites Variants
| Gene | BRCA1 |
| Mutation | NM_007294.4:c.5073A>C |
| Allele registry ID | CA500146299 |
| Effect | Intron inclusion between exons 16 & 17 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-CD-A4MG-01A | 62673901-6dd7-4a63-bd4f-91941fbcf841_gdc_realn_rehead.bam | GDC/TCGA | TCGA-CD-A4MG-01A_BRCA1_CA500146299.jpeg | hg38 |
