MutSpliceDB: a database of Splice Sites Variants
Gene | TTC7A |
Mutation | NM_020458.4:c.518-2A>T |
Allele registry ID | CA346722756 |
Effect | Intron inclusion between exons 3 & 4 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-56-8307-01A | 0dab5bf8-abc8-4fba-aa61-8f248378d942.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-56-8307-01A_TTC7A_CA346722756.jpeg | hg38 |