MutSpliceDB: a database of Splice Sites Variants
Gene | CC2D1A |
Mutation | NM_017721.5:c.2074-1G>T |
Allele registry ID | CA404394847 |
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-HF-7132-01A | 5fc71aaf-d3b8-4c5b-9862-dc28df999ea4.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-HF-7132-01A_CC2D1A_CA404394847.jpeg | hg38 |