NM_130837.3:c.1189A>G

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  2. NM_130837.3:c.1189A>G

HGVS Expressions

  • NG_011605.1:g.54661A>G
  • NM_130837.3:c.1189A>G
  • NP_570850.2:p.Lys397Glu
  • NC_000003.12:g.193642804A>G

Associated Genes

OPA1 Mitochondrial Dynamin-Like GTPase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1057517999

Clinvar

372816

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
165500.1United Arab Emirates1Likely PathogenicOptic Atrophy 1Mu et al. 2019
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Contributors

  • Pratibha Nair: 08.01.2024

Edit History

  • Pratibha Nair: 08.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.