NM_012160.4:c.1303C>T

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  2. NM_012160.4:c.1303C>T

HGVS Expressions

  • NG_033903.1:g.53725C>T
  • NM_012160.4:c.1303C>T
  • NP_036292.2:p.Arg435Ter

Associated Genes

F-Box and Leucine-Rich Repeat Protein 4
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Genomic Location

chr6:98899282

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

201889294

Clinvar

66091

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615471.3.1Lebanon2PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Ballout et al. 2019
615471.3.2Lebanon1PathogenicBallout et al. 2019 Mother of 615471.3.1
615471.3.3Lebanon1PathogenicBallout et al. 2019 Father of 615471.3.1
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.