MutSpliceDB: a database of Splice Sites Variants
| Gene | MTHFR |
| Mutation | NM_005957.5:c.236+1G>A |
| Allele registry ID | CA16044134 |
| Effect | Intron inclusion between exons 2 & 3 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-B8-A54K-01A | c7a06148-da7d-4638-950f-9f85ab57cc0f.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-B8-A54K-01A_MTHFR_CA16044134.jpeg | hg38 |
