NM_015311.3:c.1119G>C

HGVS Expressions

  • NG_016977.1:g.8329G>C
  • NM_015311.3:c.1119G>C
  • NP_056126.1:p.Trp373Cys

Associated Genes

Obscurin-Like 1
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Genomic Location

chr2:219568218

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612921.1.1Oman2PathogenicThree M Syndrome 2Akawi et al. 2011 Emirati family of omani origin. Six affe...
612921.1.2Oman2PathogenicThree M Syndrome 2Akawi et al. 2011 Sibling of 612921.1.1
612921.1.3Oman2PathogenicThree M Syndrome 2Akawi et al. 2011 Sibling of 612921.1.1
612921.1.4Oman1PathogenicAkawi et al. 2011 Father of 612921.1.1
612921.1.5Oman1PathogenicAkawi et al. 2011 Mother of 612921.1.1
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