NM_015311.3:c.1306del

HGVS Expressions

  • NG_016977.1:g.8601del
  • NM_015311.3:c.1306del
  • NP_056126.1:p.Arg436GlyfsTer14
  • NC_000002.12:g.219567949del

Associated Genes

Obscurin-Like 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612921.3Saudi Arabia2NAPathogenicThree M Syndrome 2Al-Dosari et al. 2012; Maddirevula et al. 2018
612921.4.1Saudi Arabia2NAPathogenicThree M Syndrome 2Al-Dosari et al. 2012; Maddirevula et al. 2018
612921.4.2Saudi Arabia2NAPathogenicThree M Syndrome 2Al-Dosari et al. 2012; Maddirevula et al. 2018 Sibling of 612921.4.1
612921.G.1Saudi Arabia6NAPathogenicThree M Syndrome 2Maddirevula et al. 2018 Three related patients
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