MutSpliceDB: a database of Splice Sites Variants
Gene | NBN |
Mutation | NM_002485.5:c.1845+1G>A |
Allele registry ID | CA371654960 |
Effect | Intron inclusion between exons 11 & 12 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-UZ-A9PK-01A | 4097c290-5097-4241-9f29-0da0012c7409_gdc_realn_rehead.bam | GDC/TCGA | TCGA-UZ-A9PK-01A_NBN_CA371654960.jpeg | hg38 |