NM_024884.2:c.1015delA

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HGVS Expressions

  • NG_008092.1:g.49428del
  • NM_024884.2:c.1015delA
  • NP_079160.1:p.Arg339AspfsTer13
  • NC_000014.9:g.50267802del

Associated Genes

L-2-Hydroxyglutarate Dehydrogenase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1555328749

Clinvar

435701

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236792.1.1Saudi Arabia2NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F5' in the publicat...
236792.1.2Saudi Arabia2NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F5' in the publicat...
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Contributors

    Edit History

    • Pratibha Nair: 12.10.2022
    • Asha Deepthi: 03.03.2021
    • Asha Deepthi: 29.11.2018
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.