MutSpliceDB: a database of Splice Sites Variants
| Gene | ABHD12 |
| Mutation | NM_001042472.3:c.1157+3G>C |
| Allele registry ID | CA2573332047 |
| Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-CV-7427-01A | 2b972d57-78e5-4ca8-95cf-236226255a23.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-CV-7427-01A_ABHD12_CA2573332047.jpeg | hg38 |
