MutSpliceDB: a database of Splice Sites Variants
Gene | PTEN |
Mutation | NM_000314.8:c.492+1G>A |
Allele registry ID | CA377482838 |
Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-SJ-A6ZJ-01A | e15aea13-eb7e-47a7-a480-f91321a69ec0_gdc_realn_rehead.bam | GDC/TCGA | TCGA-SJ-A6ZJ-01A_PTEN_CA377482838.jpeg | hg38 |