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


GeneNDUFS2
MutationNM_004550.4:c.1354+5G>A
Allele registry IDCA292498
EffectProbable 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-A8P2-01Ac3ee66f2-c489-47df-9b05-6dac8205f8f9.rna_seq.genomic.gdc_realn.bamGDC/TCGATCGA-VQ-A8P2-01A_NDUFS2_CA292498.jpeghg38