NM_145064.3:c.851G>C

HGVS Expressions

  • NG_033835.1:g.11872G>C
  • NM_145064.3:c.851G>C
  • NP_659501.1:p.Trp284Ser
  • NC_000012.12:g.57244322C>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

88744

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255995.1United Arab Emirates2PathogenicMyopathy, Congenital, Bailey-BlochSaleh et al. 2021
255995.2.1Qatar2PathogenicMyopathy, Congenital, Bailey-BlochTelegrafi et al. 2017
255995.2.2Qatar2PathogenicMyopathy, Congenital, Bailey-BlochTelegrafi et al. 2017 Older sibling of 255995.2.1
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