NM_002180.2:c.62G>T

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  2. NM_002180.2:c.62G>T

HGVS Expressions

  • NG_007976.1:g.5164G>T
  • NM_002180.2:c.62G>T
  • NP_002171.2:p.Arg21Ile
  • NC_000011.10:g.68904014G>T

Associated Genes

Immunoglobulin MU-Binding Protein 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616155.GLebanon8Likely PathogenicCharcot-Marie-Tooth Disease, Axonal, Type 2SMegarbane et al. 2022 4 patients from 2 families. Clinical fea...
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Contributors

  • Sami Bizzari: 20.03.2023

Edit History

  • Sami Bizzari: 21.03.2023
  • Sami Bizzari: 20.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.