NM_001793.6:c.977C>A

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HGVS Expressions

  • NG_009096.1:g.41830C>A
  • NM_001793.6:c.977C>A
  • NP_001784.2:p.Pro326His
  • NC_000016.10:g.68681077C>A

Associated Genes

Cadherin 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601553.1United Arab Emirates2Likely PathogenicHypotrichosis, Congenital, with Juvenile Macular DystrophyKhan. 2020
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Contributors

  • Asha Deepthi: 16.05.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 16.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.