NM_022124.6:c.5237G>A

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HGVS Expressions

  • NG_008835.1:g.387370G>A
  • NM_022124.6:c.5237G>A
  • NP_071407.4:p.Arg1746Gln
  • NC_000010.11:g.71779316G>A

Associated Genes

Cadherin 23
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

111033270

Clinvar

4916

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601067.2United Arab Emirates2NAPathogenicUsher Syndrome, Type IDAl Dhahouri et al. 2021
601386.2United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 12Elsayed O and Al-Shamsi A. 2022 Data on parents unavailable.
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Contributors

  • Asha Deepthi: 23.05.2022

Edit History

  • Sami Bizzari: 09.10.2023
  • Asha Deepthi: 23.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.