NM_004004.5:c.235del

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HGVS Expressions

  • NG_008358.1:g.8629del
  • NM_004004.5:c.235del
  • NP_003995.2:p.Leu79fs
  • NC_000013.11:g.20189349del

Associated Genes

Gap Junction Protein, Beta-2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

80338943

Clinvar

17014

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.1Palestine1NAPathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002
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Contributors

    Edit History

    • Asha Deepthi: 11.03.2021
    • Asha Deepthi: 29.01.2019
    • Asha Deepthi: 28.01.2019
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    © CAGS 2024. All rights reserved.