MutSpliceDB: a database of Splice Sites Variants
Gene | EZH2 |
Mutation | NM_004456.5:c.2195+1G>A |
Allele registry ID | CA369711878 |
Effect | Intron inclusion between exons 19 & 20 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-AB-2865 | 855e74f6-0e52-44bf-af66-246b1635daaf.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-AB-2865_EZH2_CA369711878.jpg | hg38 |