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. 2018 May 3;102(5):874–889. doi: 10.1016/j.ajhg.2018.03.012

Figure 7.

Figure 7

Reconstructed Pedigree from DiscovEHR Demonstrates the Segregation of Known Disease-Causing Variants

Segregating variants include variants for (A) aortic aneurysms (ACTA2 [MIM: 102620], c.353G>A [p.Arg118Gln]; GenBank: NM_001613.2; Ensembl: ENST00000224784), (B) long QT syndrome (KCNH2 [MIM: 152427], c.3278C>T [p.Pro1093Leu]; GenBank: NM_000238.3; Ensembl: ENST00000262186), and (C) thyroid cancer (RET [MIM: 164761], c.2671T>G [p.Ser891Ala]; GenBank: NM_020630.4; Ensembl: ENST00000340058).