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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

Fig. 2

Electropherogram profiles for Sanger sequencing and STR genotypes in the M659 family. A, B, C, and D indicate the sequenced results in II: 1 (heterozygous mutant type), I: 1 (wild-type), I: 2 (wild-type), II:2 (wild-type) of variant c.4963delA in the NF1 gene, respectively. The arrows show the mutant position. “WT” indicates wild type. E ~ G. Short tandem repeat (STR) genotypes from the family of M659 pedigree. E. An electropherogram of STR genotypes from proband’s father I:1. F. An electropherogram of STR genotypes from the proband herself II:1. G. An electropherogram of STR genotypes from proband’s mother I:1. The “Y” axis indicates the values of RFU (relative fluorescence units), whereas the “X” axis indicates the STR markers for loci

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