MutSpliceDB: a database of Splice Sites Variants
Gene | MSH2 |
Mutation | NM_000251.3:c.1276+2T>C |
Allele registry ID | CA027509 |
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-EO-A3AZ-01A | 6add30d6-ff14-4116-b6c0-b92a38f3b7ec_gdc_realn_rehead.bam | GDC/TCGA | TCGA-EO-A3AZ-01A_MSH2_CA027509.jpeg | hg38 |