NM_000540.3:c.13505A>G

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HGVS Expressions

  • NG_008866.1:g.138279A>G
  • NM_000540.3:c.13505A>G
  • NP_001036188.1:p.Glu4497Gly
  • NC_000019.10:g.38566978A>G

Associated Genes

Ryanodine Receptor 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

139647387

Clinvar

161366

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
117000.2United Arab Emirates1Likely PathogenicCentral Core Disease of MuscleMu et al. 2019
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Contributors

  • Pratibha Nair: 08.01.2024

Edit History

  • Pratibha Nair: 08.01.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.