MutSpliceDB: a database of Splice Sites Variants
Gene | KDM6A |
Mutation | NM_001291415.2:c.4035-2A>T |
Allele registry ID | CA412774216 |
Effect | Potential intron inclusion between exons 27 & 28 or skipping beginning of exon 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-E7-A6MD-01A | f1c5eae0-9272-4427-99b0-d898fd0ae240.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-E7-A6MD-01A_KDM6A_CA412774216.jpeg | hg38 |