MutSpliceDB: a database of Splice Sites Variants
Gene | RECQL4 |
Mutation | NM_004260.4:c.1258+3G>C |
Allele registry ID | CA2573331893 |
Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-G2-A2EL-01A | a2c96b20-f3ad-4671-94f3-058475f0ddac.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-G2-A2EL-01A_RECQL4_CA2573331893.jpeg | hg38 |