NM_001182.4:c.567_611del

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HGVS Expressions

  • NG_008600.2:g.23229_23273del
  • NM_001182.4:c.567_611del
  • NP_001173.2:p.Ile190_Asn204del
  • NC_000005.10:g.126577118_126577162del

Associated Genes

Aldehyde Dehydrogenase 7 Family, Member A1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266100.3United Arab Emirates2Likely PathogenicEpilepsy, Pyridoxine DependentAl-Shamsi et al. 2014
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Contributors

  • Pratibha Nair: 16.05.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 05.12.2018
  • Pratibha Nair: 28.11.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.