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Genome Information for Homo sapiens
In this study, we introduced a novel variant in GPT2 gene which justifies the NS-ID phenotype in an Iranian family with four affected members (Figure 1).
More...In this study, we introduced a novel variant in GPT2 gene which justifies the NS-ID phenotype in an Iranian family with four affected members (Figure 1). By Trio-WES, c.266A>G; p.(Glu89Gly) variant, in GPT2 gene, was identified and verified by Sanger sequencing. This homozygous variant co-segregates with ID phenotype in all affected members of the family. Actually, the present report is distinct in clinical patterns. Although according to the ACMG-AMP variant interpretation guideline, p.(Glu89Gly) can be considered as an uncertain significant variant, we provided enough in-silico evidence supporting its possible contribution to ID pathogenesis.
Less...| Accession | PRJNA573914 |
| Data Type | Genome sequencing |
| Scope | Monoisolate |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Submission | Registration date: 24-Sep-2019
Ehsan |
| Relevance | Medical |
| Locus Tag Prefix | F6452 |
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