MutSpliceDB: a database of Splice Sites Variants
Gene | MBD6 |
Mutation | NM_052897.4:c.114-1G>A |
Allele registry ID | CA385476144 |
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-CN-6995-01A | a6e75a2e-6b13-42e3-aca3-7421a4367498.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-CN-6995-01A_MBD6_CA385476144.jpeg | hg38 |