MutSpliceDB: a database of Splice Sites Variants
| Gene | BRCA1 |
| Mutation | NM_007297.3:c.5266-2A>G |
| Allele registry ID | CA003572 |
| Effect | Intron inclusion between exons 20 & 21 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| Ishikawa (Heraklio) 02 ER- | G28875.Ishikawa__Heraklio__02_ER-.3.bam | GDC/CCLE | Ishikawa_Heraklio_02_ER-BRCA1_CA003572.jpeg | hg19 | G28875.Ishikawa__Heraklio__02_ER-.3_BRCA1_mini.zip | Open mini BAM in IGV |
