NM_015311.3:c.690delC

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  2. NM_015311.3:c.690delC

HGVS Expressions

  • NG_016977.1:g.6004delC
  • NP_056126.1:p.Glu231Argfs

Associated Genes

Obscurin-Like 1
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Genomic Location

chr2:219570543

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
612921.2.1Jordan2PathogenicThree M Syndrome 2Akawi et al. 2011
612921.2.2Jordan2PathogenicThree M Syndrome 2Akawi et al. 2011 Sibling of 612921.2.1
612921.2.3Jordan2PathogenicThree M Syndrome 2Akawi et al. 2011 Sibling of 612921.2.1
612921.2.4Jordan1PathogenicAkawi et al. 2011 Father of 612921.2.1
612921.2.5Jordan1PathogenicAkawi et al. 2011 Moher of 612921.2.1
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Contributors

  • Pratibha Nair: 28.07.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 28.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.