NM_004004.6:c.290dup

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HGVS Expressions

  • NG_008358.1:g.8684dup
  • NM_004004.6:c.290dup
  • NP_003995.2:p.Tyr97Ter
  • NC_000013.11:g.20189292dup

Associated Genes

Gap Junction Protein, Beta-2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

dbSNP

786204491

Clinvar

188821

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.9Lebanon1Likely PathogenicDeafness, Autosomal Recessive 1AMustapha et al, 2001 Compound heterozygote
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Contributors

  • Pratibha Nair: 06.02.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 06.02.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.