Table 2 The GLIS3 gene polymorphism spectrum in patients with a MODY phenotype in Russia
Chromosome: position | Localization | aa or nucleotide changes | SNV | Zygosity | Clinical significance (ClinVar) | MAF from 1000G |
|---|---|---|---|---|---|---|
chr9:3828379 | Exon 11 | p.Leu896Phe/c.2686C>T | rs76094493 | Heterozygous | Likely benign | A = 0.04 |
chr9:3829212 | Intron 10 | T>C | rs7029652 | Heterozygous | NA | C = 0.14 |
chr9:3855963 | Intron 9 | delA | rs397766987 | Heterozygous | NA | A = 0.36 |
chr9:3879646 | Intron 7 | G>A | rs17692969 | Heterozygous | NA | A = 0.026 |
chr9:3879693 | Intron 7 | T>C | rs4740742 | Heterozygous | C = 0.09 | |
chr9:3898723 | Exon 6 | p.Arg699His/c.2096G>A | rs149840771 | Heterozygous | NA | T = 0.0002 |
chr9:3932283 | Intron 6 | C>G | rs535978 | Heterozygous, homozygous GG | NA | G = 0.40 |
chr9:3932521 | Intron 5 | C>T | rs587571 | Heterozygous | NA | T = 0.04 |
chr9:3937255 | Intron 4 | T>A | rs676935 | Heterozygous | NA | A = 0.37 |
chr9:3937288 | Intron 4 | G>A | rs10974212 | Heterozygous | NA | A = 0.32 |
chr9:4118111 | Exon 4 | p.Pro456Gln/c.1367C>A | rs6415788 | Homozygous AA | Other | G = 0.32 |
chr9:4118208 | Exon 4 | p.Ser424Pro/c.1270T>C | rs806052 | Homozygous CC | Other | A = 0.001 |
chr9:4118634 | Exon 4 | p.Pro282Ala/c.844C>G | rs143051164 | Heterozygous | Uncertain significance allele | C = 0.0004 |
chr9:4285986 | Intron 2 | G>C | rs10758591 | Heterozygous | NA | C = 0.34 |
chr9:4298537 | Intron 1 | G>A | rs12340657 | Heterozygous | NA | A = 0.23 |