NM_022124.6:c.8803C>T

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HGVS Expressions

  • NG_008835.1:g.417954C>T
  • NM_022124.6:c.8803C>T
  • NP_071407.4:p.Arg2935Ter
  • NC_000010.11:g.71809900C>T

Associated Genes

Cadherin 23
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1190307769

Clinvar

620124

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601067.1Lebanon2PathogenicUsher Syndrome, Type IDReddy et al. 2014 The patient had a similarly affected sis...
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Contributors

  • Sayeeda Hana: 10.03.2021

Edit History

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