Whole exome sequencing results in baby.
| Gene (transcript) | Location | Variant | Type of mutation | Zygosity | Inheritance | Disease association | Pathogenicity |
|---|---|---|---|---|---|---|---|
| MECOM (chr3:g.168806874_168806877delATTG) | Exon 16 | c.3127_3130del (p.Gln1043IlefsTer33) | Deletion-frameshift | Hetero-zygous | Autosomal dominant | Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (MECOM-associated syndrome) | Pathogenic |
Blood Res 2021;56:53~56 https://doi.org/10.5045/br.2021.2020299
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