MutSpliceDB: a database of Splice Sites Variants
Gene | KEAP1 |
Mutation | NM_203500.2:c.1709-2A>C |
Allele registry ID | CA403982536 |
Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-EO-A22U-01A | 18c52fe6-5cb0-4e59-91a2-e9845c0527c6_gdc_realn_rehead.bam | GDC/TCGA | TCGA-EO-A22U-01A_KEAP1_CA403982536.jpeg | hg38 |