NM_000693.4:c.1105A>T

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HGVS Expressions

  • NG_012254.1:g.30756A>T
  • NM_000693.4:c.1105A>T
  • NP_000684.2:p.Ile369Phe
  • NC_000015.10:g.100905559A>T

Associated Genes

Aldehyde Dehydrogenase 1 Family, Member A3
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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
615113.2Saudi Arabia2Likely PathogenicMicrophthalmia, Isolated 8Patel et al. 2018
615113.7Egypt2Likely PathogenicMicrophthalmia, Isolated 8Patel et al. 2018
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Contributors

  • Pratibha Nair: 25.09.2023

Edit History

  • Pratibha Nair: 25.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.