NM_000540.2:c.8758C>T

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  2. NM_000540.2:c.8758C>T

HGVS Expressions

  • NG_008866.1:g.78195C>T
  • NM_000540.2:c.8758C>T
  • NP_000531.2:p.Arg2920*

Associated Genes

Ryanodine Receptor 1
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Genomic Location

NG_008866.1:g.78195C>T

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
117000.1Lebanon1Likely PathogenicCentral Core Disease of MuscleNair et al. 2018
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Contributors

  • Pratibha Nair: 14.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 14.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.