MutSpliceDB: a database of Splice Sites Variants
Gene | ADA |
Mutation | NM_000022.4:c.679-1G>A |
Allele registry ID | CA409120361 |
Effect | Intron inclusion between exons 7 & 8 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-EE-A2MC-06A | 6fdba671-fb71-438f-ad62-e3d515e0222d.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-EE-A2MC-06A_ADA_CA409120361.jpeg | hg38 |