MutSpliceDB: a database of Splice Sites Variants
Gene | KMT2D |
Mutation | NM_003482.4:c.5783-1G>C |
Allele registry ID | CA384628522 |
Effect | Intron inclusion between exons 26 & 27 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-4Z-AA80-01A | d2beac65-0b94-42df-b9e6-f1dac98f183e_gdc_realn_rehead.bam | GDC/TCGA | TCGA-4Z-AA80-01A_KMT2D_CA384628522.jpeg | hg38 |