NM_000383.3:c.845_846insC

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  2. NM_000383.3:c.845_846insC

HGVS Expressions

  • NG_009556.1:g.9156_9157insC
  • NM_000383.3:c.845_846insC
  • NP_000374.1:p.Leu283Serfs*6

Associated Genes

Autoimmune Regulator
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Genomic Location

Chr21:44290035

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
240300.6Saudi Arabia2PathogenicAutoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal DysplasiaFaiyaz-Ul-Haque et al, 2009 Affected first cousin not genotyped
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Contributors

  • Pratibha Nair: 23.10.2018

Edit History

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