NM_001793.6:c.307C>T

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HGVS Expressions

  • NG_009096.1:g.38947C>T
  • NM_001793.6:c.307C>T
  • NP_001784.2:p.Arg103Ter
  • NC_000016.10:g.68678194C>T

Associated Genes

Cadherin 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1157108621

Clinvar

866071

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225280.2.1Saudi Arabia2NAPathogenicEctodermal Dysplasia, Ectrodactyly, and Macular Dystrophy SyndromeMaddirevula et al. 2018
225280.2.2Saudi Arabia2NAPathogenicEctodermal Dysplasia, Ectrodactyly, and Macular Dystrophy SyndromeMaddirevula et al. 2018 Relative of 225280.2.1
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Contributors

  • Asha Deepthi: 28.10.2021

Edit History

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