MutSpliceDB: a database of Splice Sites Variants
Gene | POMGNT1 |
Mutation | NM_017739.4:c.354+1G>A |
Allele registry ID | CA16040755 |
Effect | Intron inclusion between exons 4 & 5 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-44-7660-01A | 4933c476-e3f3-45b0-b158-dcbe0539644e.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-44-7660-01A_POMGNT1_CA16040755.jpeg | hg38 |