NM_000383.2:c.93_94insT

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  2. NM_000383.2:c.93_94insT

HGVS Expressions

  • NG_009556.1:g.5220_5221insT
  • NM_000383.2:c.93_94insT
  • NP_000374.1:p.Leu32SerfsTer3

Associated Genes

Autoimmune Regulator
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Genomic Location

Chr21:44286099

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
240300.2.1Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009 First cousin of 240300.2.2
240300.2.2Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009
240300.2.3Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009 Sister of 240300.2.2
240300.2.4Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009 Brother of 240300.2.2
240300.2.5Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009 First cousin of 240300.2.2
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Contributors

  • Pratibha Nair: 23.10.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 16.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.