NM_004004.5:c.506G>A

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  2. NM_004004.5:c.506G>A

HGVS Expressions

  • NG_008358.1:g.8900G>A
  • NM_004004.5:c.506G>A
  • NP_003995.2:p.Cys169Tyr
  • NC_000013.11:g.20189076C>T

Associated Genes

Gap Junction Protein, Beta-2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

774518779

Clinvar

265481

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.9.3United Arab Emirates6PathogenicDeafness, Autosomal Recessive 1ATlili et al. 2017 3 unrelated patients
220290.G.11.1United Arab Emirates6PathogenicDeafness, Autosomal Recessive 1AMahfood et al. 2021 3 siblings (2 male, 1 female) with a mol...
220290.G.11.2United Arab Emirates2Mahfood et al. 2021 Healthy sister and mother heterozygous f...
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Contributors

  • Sayeeda Hana: 07.04.2021

Edit History

  • Sami Bizzari: 22.02.2022
  • Sami Bizzari: 17.02.2022
  • Sayeeda Hana: 07.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.