MutSpliceDB: a database of Splice Sites Variants
| Gene | HNF1A |
| Mutation | NM_000545.8:c.1502-1G>A |
| Allele registry ID | CA386971534 |
| Effect | Intron inclusion between exons 7 & 8 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-WJ-A86L-01A | 25cb96a0-40d9-4d91-b997-efa79962f6e2.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-WJ-A86L-01A_HNF1A_CA386971534.jpeg | hg38 |
