NM_000540.3:c.14209C>T

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HGVS Expressions

  • NG_008866.1:g.149255C>T
  • NM_000540.3:c.14209C>T
  • NP_000531.2:p.Arg4737Trp
  • NC_000019.10:g.38577954C>T

Associated Genes

Ryanodine Receptor 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

193922867

Clinvar

133060

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255320.2Saudi Arabia2Likely PathogenicCongenital Myopathy 1B, Autosomal RecessiveMonies et al. 2017
255320.3Saudi Arabia2Likely PathogenicCongenital Myopathy 1B, Autosomal RecessiveMonies et al. 2017
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Contributors

  • Asha Deepthi: 20.09.2024

Edit History

  • Asha Deepthi: 22.11.2024
  • Asha Deepthi: 20.09.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.