NM_006623.3:c.1286G>T

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  2. NM_006623.3:c.1286G>T

HGVS Expressions

  • NG_009188.1:g.36088G>T
  • NM_006623.3:c.1286G>T
  • NP_006614.2:p.Gly429Val
  • NC_000001.11:g.119742883G>T

Associated Genes

Phosphoglycerate Dehydrogenase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1652276195

Clinvar

916534

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256520.2United Arab Emirates2PathogenicPhosphoglycerate Dehydrogenase DeficiencyEl-Hattab et al. 2016
601815.1United Arab Emirates2Likely PathogenicPhosphoglycerate Dehydrogenase DeficiencySaleh et al. 2021 Cousin with seizures
601815.2United Arab Emirates2Likely PathogenicPhosphoglycerate Dehydrogenase DeficiencyAlabdullatif et al. 2017 Parents from the same area
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Contributors

  • Sayeeda Hana: 04.08.2020

Edit History

  • Pratibha Nair: 26.10.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 12.07.2022
  • Pratibha Nair: 27.06.2022
  • Pratibha Nair: 11.01.2022
  • Sayeeda Hana: 04.08.2020
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© CAGS 2024. All rights reserved.