NM_004004.5:c.617A>G

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HGVS Expressions

  • NG_008358.1:g.9011A>G
  • NM_004004.5:c.617A>G
  • NP_003995.2:p.Asn206Ser
  • NC_000013.11:g.20188965T>C

Associated Genes

Gap Junction Protein, Beta-2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

111033294

Clinvar

44763

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.4.5Algeria1NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from an Alger...
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Contributors

    Edit History

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