NM_000083.3:c.2786delC

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  2. NM_000083.3:c.2786delC

HGVS Expressions

  • NG_009815.1:g.40659delC
  • NM_000083.3:c.2786delC
  • NP_000074.3:p.Pro930LeufsTer18
  • NC_000007.14:g.143351787del

Associated Genes

Chloride Channel 1, Skeletal Muscle
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

871783

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
160800.1Lebanon1Likely PathogenicMyotonia Congenita, Autosomal DominantJalkh et al. 2019
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Contributors

  • Pratibha Nair: 28.10.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 28.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.