MutSpliceDB: a database of Splice Sites Variants
Gene | CHD2 |
Mutation | NM_001271.4:c.5153+1G>A |
Allele registry ID | CA393908020 |
Effect | Intron inclusion between exons 38 & 39 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-FD-A3SJ-01A | 9f7c8673-9fdf-4ec2-b4d1-fbd47a640d91.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-FD-A3SJ-01A_CHD2_CA393908020.jpeg | hg38 |