MutSpliceDB: a database of Splice Sites Variants
| Gene | CPT1A |
| Mutation | NM_001876.4:c.2236-1G>T |
| Allele registry ID | CA381624957 |
| Effect | Intron inclusion between exons 18 & 19 |
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_CPT1A_CA381624957.jpeg | hg38 |
