MutSpliceDB: a database of Splice Sites Variants
Gene | ETFDH |
Mutation | NM_004453.4:c.684+1G>T |
Allele registry ID | CA358560066 |
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-ZQ-A9CR-01A | b0a58bad-9306-4450-9e2e-b3fe199a9ceb.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-ZQ-A9CR-01A_ETFDH_CA358560066.jpeg | hg38 |