NM_000693.4:c.434C>T

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HGVS Expressions

  • NG_012254.1:g.17795C>T
  • NM_000693.4:c.434C>T
  • NP_000684.2:p.Ala145Val
  • NC_000015.10:g.100892598C>T

Associated Genes

Aldehyde Dehydrogenase 1 Family, Member A3
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1802996

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615113.3Saudi Arabia2Likely PathogenicMicrophthalmia, Isolated 8Patel et al. 2018
615113.4Saudi Arabia2Likely PathogenicMicrophthalmia, Isolated 8Patel et al. 2018
615113.5Saudi Arabia2Likely PathogenicMicrophthalmia, Isolated 8Patel et al. 2018
615113.6Saudi Arabia2Likely 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.