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Biometric Research Program (BRP)
    MutSpliceDB: a database of Splice Sites Variants


GeneNF1
MutationNM_001042492.3:c.7615+1G>A
Allele registry IDCA399017902
EffectIntron inclusion between exons 51 & 52

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-G4-6628-01A95874ff8-e812-4910-9c37-1bd833da1cf1_gdc_realn_rehead.bamGDC/TCGATCGA-G4-6628-01A_NF1_CA399017902.jpeghg38