Fig. 2
From: Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
a Sequencing analysis of genomic DNA from the proband carrying the c.793-1G > A variant in the CHEK2 gene. b Binding sites of the primers on the cDNA of CHEK2 c RT-PCR electrophoresis products on 3% agarose gel. Lane 1: proband’s sample with the splicing variant, Lane 2: normal sample, Lane 3: negative control, Lane 4: 1000 bp DNA ladder (New England Biolabs). d Sequencing analysis of the proband’s cDNA showing the frameshift of the variant and the generation of a premature translation stop signal (TAG) 10 amino acid residues later (bottom panel) compared to the sequencing analysis of a wild type sample (top panel)