MutSpliceDB: a database of Splice Sites Variants
| Gene | PTCH1 |
| Mutation | NM_000264.3:c.2561-1G>A |
| Allele registry ID | CA374113600 |
| Effect | Intron inclusion between exons 15 & 16 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| NCI-H2029 | G25228.NCI-H2029.1.bam | GDC/CCLE | NCI-H2029_PTCH1_CA374113600.jpeg | hg19 | G25228.NCI-H2029.1_PTCH1_mini.zip | Open mini BAM in IGV |
