NM_000080.4:c.1197_1198dup

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HGVS Expressions

  • NG_008029.2:g.8856_8857dup
  • NM_000080.4:c.1197_1198dup
  • NP_000071.1:p.His400ArgfsTer29
  • NC_000017.11:g.4899219_4899220dup

Associated Genes

Cholinergic Receptor, Nicotinic, Epsilon Polypeptide
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616324.1Saudi Arabia2Likely PathogenicMyasthenic Syndrome, Congenital, 4B, Fast-ChannelMonies et al. 2017
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Contributors

  • Asha Deepthi: 07.12.2024

Edit History

  • Asha Deepthi: 07.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.