MutSpliceDB: a database of Splice Sites Variants
Gene | KDM6A |
Mutation | NM_001291415.2:c.4035-1G>A |
Allele registry ID | CA412774219 |
Effect | Intron inclusion between exons 27 & 28 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-GD-A2C5-01A | c38be472-422b-4769-b86b-8010c30f1181.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-GD-A2C5-01A_KDM6A_CA412774219.jpeg | hg38 |