MutSpliceDB: a database of Splice Sites Variants
Gene | PNKP |
Mutation | NM_007254.4:c.152-8A>G |
Allele registry ID | CA9587032 |
Effect | Potential intron inclusion between exons 2 & 3 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-ND-A4WC-01A | ded55167-c423-43e5-8bd8-62aa4041d4de.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-ND-A4WC-01A_PNKP_CA9587032.jpeg | hg38 |