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


GeneSMC3
MutationNM_005445.4:c.2644+2T>C
Allele registry IDCA378393348
EffectIntron inclusion between exons 23 & 24

RNA-seq evidence:




Sample RNA-seq BAM file (DNA BAM) Source Splicing effect image snapshot Genome version Mini BAM file Open in IGV
TCGA-AB-2950-03A3d2f9eb3-d66f-4a3c-b800-4f327751ab11.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-AB-2950-03A_SMC3_CA378393348.jpeghg38