NM_001278716.2:c.1703G>C

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HGVS Expressions

  • NG_033903.2:g.78505G>C
  • NM_001278716.2:c.1703G>C
  • NP_001265645.1:p.Gly568Ala
  • NC_000006.12:g.98874441C>G

Associated Genes

F-Box and Leucine-Rich Repeat Protein 4
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

398123060

Clinvar

66092

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615471.5Saudi Arabia2Likely PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Gai et al. 2013
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Contributors

  • Pratibha Nair: 13.11.2023

Edit History

  • Pratibha Nair: 13.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.