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Table 2 Clinical and baseline characteristics of novel KLF13 variants in CHDs patients

From: Identification and analysis of KLF13 variants in patients with congenital heart disease

PatientAgeCardiac PhenotypeLocation in GeneFunctionNucleotide ChangeAmino acid ChangeSIFTMutation tasterPolyPhen- V2Allele Frequency
17 MonthsD-TGAExon 1Missensec.467G > AS156N0.040.016520.8180.003236
29 MonthsTA VSD ASDExon 1Missensec.487C > TP163S0.570.933860.3140.003236