NM_080916.3:c.760GAT[1]

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  2. NM_080916.3:c.760GAT[1]

HGVS Expressions

  • NG_008044.1:g.36376_36378del
  • NM_080916.3:c.760GAT[1]
  • NP_550438.1:p.Asp255del
  • NC_000002.12:g.73958198GAT[1]

Associated Genes

Deoxyguanosine Kinase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

1161348996

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251880.1.1United Arab Emirates2Likely PathogenicMitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type)Al-Shamsi et al. 2016
251880.1.2United Arab Emirates2Likely PathogenicMitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type)Al-Shamsi et al. 2016 Sibling of 251880.1.1
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Contributors

  • Pratibha Nair: 05.07.2020

Edit History

  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 05.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.