MutSpliceDB: a database of Splice Sites Variants
Gene | NDUFS2 |
Mutation | NM_004550.4:c.1354+5G>A |
Allele registry ID | CA292498 |
Effect | Probable decrease in frequency of NM_004550.4 isoform |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-VQ-A8P2-01A | c3ee66f2-c489-47df-9b05-6dac8205f8f9.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-VQ-A8P2-01A_NDUFS2_CA292498.jpeg | hg38 |