NM_001182.4:c.239T>G

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  2. NM_001182.4:c.239T>G

HGVS Expressions

  • NG_008600.2:g.7033T>G
  • NM_001182.4:c.239T>G
  • NP_001173.2:p.Val80Gly
  • NC_000005.10:g.126593358A>C

Associated Genes

Aldehyde Dehydrogenase 7 Family, Member A1
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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
266100.10Lebanon2Likely PathogenicEpilepsy, Pyridoxine DependentHaidar et al, 2018; Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 21.04.2019

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Pratibha Nair: 21.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.