MutSpliceDB: a database of Splice Sites Variants
| Gene | PNKP |
| Mutation | NM_007254.4:c.637-1G>T |
| Allele registry ID | CA406886505 |
| Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-EB-A550-01A | c0693cea-de7a-4490-a0a4-7aabbb54bd8e.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-EB-A550-01A_PNKP_CA406886505.jpeg | hg38 |
