NM_024884.2:c.164G>A

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  2. NM_024884.2:c.164G>A

HGVS Expressions

  • NG_008092.1:g.14236G>A
  • NM_024884.2:c.164G>A
  • NP_079160.1:p.Gly55Asp
  • NC_000014.9:g.50302994C>T

Associated Genes

L-2-Hydroxyglutarate Dehydrogenase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

118204021

Clinvar

1610

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236792.3.1Lebanon1NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F6' in the publicat...
236792.3.2Lebanon1NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F6' in the publicat...
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Contributors

    Edit History

    • Asha Deepthi: 03.03.2021
    • Asha Deepthi: 03.01.2019
    • Asha Deepthi: 29.11.2018
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.