NM_001793.6:c.1182+1G>A

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HGVS Expressions

  • NG_009096.1:g.43241G>A
  • NM_001793.6:c.1182+1G>A
  • NC_000016.10:g.68682488G>A

Associated Genes

Cadherin 3
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225280.1.1Saudi Arabia2NAPathogenicEctodermal Dysplasia, Ectrodactyly, and Macular Dystrophy SyndromeMaddirevula et al. 2018
225280.1.2Saudi Arabia2NAPathogenicEctodermal Dysplasia, Ectrodactyly, and Macular Dystrophy SyndromeMaddirevula et al. 2018 Relative of 225280.1.1
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Contributors

  • Asha Deepthi: 28.10.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 28.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.