MutSpliceDB: a database of Splice Sites Variants
Gene | DNAH5 |
Mutation | NM_001369.3:c.6579+2T>C |
Allele registry ID | CA359197017 |
Effect | Intron inclusion between exons 39 & 40 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-XK-AAIW-01A | 748df5d4-527b-49d9-8093-c326cb61a015.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-XK-AAIW-01A_DNAH5_CA359197017.jpeg | hg38 |