MutSpliceDB: a database of Splice Sites Variants
| Gene | HPS4 |
| Mutation | NM_022081.6:c.502-1G>A |
| Allele registry ID | CA411030575 |
| Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-D3-A1QA-07A | 57ab4aef-e740-4494-b0b5-3b008f9d446f.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-D3-A1QA-07A_HSP4_CA411030575.jpeg | hg38 |
