NM_000260.3:c.462C>A

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HGVS Expressions

  • NG_009086.1:g.32820C>A
  • NM_000260.3:c.462C>A
  • NP_000251.3:p.Cys154Ter
  • NC_000011.10:g.77156083C>A

Associated Genes

Myosin VIIA
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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
276900.3Jordan2PathogenicUsher Syndrome Type IReddy et al. 2014 The patient had a similarly affected sis...
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Contributors

  • Sayeeda Hana: 10.03.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 22.03.2021
  • Sayeeda Hana: 10.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.