NM_015311.3:c.268_642del

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HGVS Expressions

  • NG_016977.1:g.5582_5956del
  • NM_015311.3:c.268_642del
  • NP_056126.1:p.Ala90_Ala214del
  • NC_000002.12:g.219570604_219570978del

Associated Genes

Obscurin-Like 1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612921.G.2Saudi Arabia6NAUncertain SignificanceThree M Syndrome 2Maddirevula et al. 2018 Three related patients
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Contributors

  • Asha Deepthi: 08.02.2022

Edit History

  • Asha Deepthi: 08.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.