MutSpliceDB: a database of Splice Sites Variants
| Gene | USH1C |
| Mutation | NM_153676.4:c.819+2T>G |
| Allele registry ID | CA379789318 |
| Effect | Intron inclusion between exons 10 & 11 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-B0-5695-01A | 9642c424-4dca-4f0a-b513-059748247045.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-B0-5695-01A_USH1C_CA379789318.jpeg | hg38 |
