MutSpliceDB: a database of Splice Sites Variants
Gene | FANCA |
Mutation | NM_000135.4:c.3828+2T>A |
Allele registry ID | CA397485122 |
Effect | Intron inclusion between exons 38 & 39 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-CQ-A4CI-01A | 40524533-0b1c-4026-b1b0-4663df1bf618_gdc_realn_rehead.bam | GDC/TCGA | TCGA-CQ-A4CI-01A_FANCA_CA397485122.jpeg | hg38 |