Research Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
Table 3
Identified indels and their predictions in the present sample (n = 60).
| Gene | ZFPM2 | JAM3 |
| dbSNP | rs199956937 | rs3216140 | Position (hg19) | chr8: 106816289 C > CTT | chr11: 134014673 C > CCT | MAF (AbraOM) | Not identified in Brazilian population | 0.032787 | MAF (gnoMAD) | 0.005 | 0.00003207 | Genecanon | Damage | Damage | FATHMM-indel | Damage | Damage | SIFT-indel | 09% closer to exon | 42% closer to exon | RegulomeDB | NA | Binding site of transcription factor EZH2 | miRNA-target | miR-130-3p, miR-17-5p, miR-142-5p, miR-340-5p | NA | Patients | 3 patients with congenital cardiac malformations | 40 patients | Conclusion | Possibly pathogenic | Possibly pathogenic |
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Variant ID from dbSNP (b151); MAF: minor allele frequency; ChiP-Seq cluster from ENCODE with motifs. |