NM_001318872.2:c.589G>A

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  2. NM_001318872.2:c.589G>A

HGVS Expressions

  • NG_033003.1:g.112809G>A
  • NM_001318872.2:c.589G>A
  • NP_001305801.1:p.Val197Met
  • NC_000006.12:g.5369159G>A

Associated Genes

Phenylalanyl-tRNA Synthetase 2, Mitochondrial
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

149605576

Clinvar

1517423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614946.1Lebanon1Uncertain SignificanceCombined Oxidative Phosphorylation Deficiency 14Hotait et al. 2020 Hemizygous mutation in a compound hetero...
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Contributors

  • Pratibha Nair: 15.12.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 22.02.2022
  • Pratibha Nair: 15.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.