MutSpliceDB: a database of Splice Sites Variants
Gene | DHTKD1 |
Mutation | NM_018706.7:c.987+1G>T |
Allele registry ID | CA376018924 |
Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-95-7567-01A | 4ad05e6b-e3d8-4048-8f61-1e79e421de0b.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-95-7567-01A_DHTKD1_CA376018924.jpeg | hg38 |