MutSpliceDB: a database of Splice Sites Variants
Gene | CACNA1D |
Mutation | NM_001128840.3:c.2621+1G>A |
Allele registry ID | CA353241728 |
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-L5-A4OR-01A | bdb3ba48-401d-4b25-a15d-9a1558ebb3b1.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-L5-A4OR-01A_CACNA1D_CA353241728.jpeg | hg38 |