MutSpliceDB: a database of Splice Sites Variants
| Gene | FAH |
| Mutation | NM_000137.4:c.455+5G>A |
| Allele registry ID | CA2573332024 |
| 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-DA-A95Z-06A | 530f723a-ac5b-4e14-93b9-1d501b92fddd.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-DA-A95Z-06A_FAH_CA2573332024.jpeg | hg38 |
