MutSpliceDB: a database of Splice Sites Variants
Gene | NF1 |
Mutation | NM_001042492.3:c.7615+1G>A |
Allele registry ID | CA399017902 |
Effect | Intron inclusion between exons 51 & 52 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-G4-6628-01A | 95874ff8-e812-4910-9c37-1bd833da1cf1_gdc_realn_rehead.bam | GDC/TCGA | TCGA-G4-6628-01A_NF1_CA399017902.jpeg | hg38 |