NM_000166.6:c.139G>A

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  2. NM_000166.6:c.139G>A

HGVS Expressions

  • NG_008357.1:g.13635G>A
  • NM_000166.6:c.139G>A
  • NP_001091111.1:p.Glu47Lys

Associated Genes

Gap Junction Protein, Beta-1
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Genomic Location

chrX:71223845

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

916378

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
302800.2Lebanon1Likely PathogenicCharcot-Marie-Tooth Disease, X-Linked Dominant, 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 11.11.2020

Edit History

  • Sami Bizzari: 26.05.2021
  • Pratibha Nair: 11.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.