NM_000540.3:c.6617C>T

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HGVS Expressions

  • NG_008866.1:g.67584C>T
  • NM_000540.3:c.6617C>T
  • NP_000531.2:p.Thr2206Met
  • NC_000019.10:g.38496283C>T

Associated Genes

Ryanodine Receptor 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

118192177

Clinvar

12977

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255320.1Saudi Arabia2Likely PathogenicCongenital Myopathy 1B, Autosomal RecessiveAlazami et al. 2015 No motor delay
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Contributors

  • Pratibha Nair: 22.03.2023

Edit History

  • Pratibha Nair: 22.03.2023
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.