NM_014297.5:c.488G>A

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HGVS Expressions

  • NG_008141.1:g.20791G>A
  • NM_014297.5:c.488G>A
  • NP_055112.2:p.Arg163Gln
  • NC_000019.10:g.43511454C>T

Associated Genes

ETHE1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

745656120

Clinvar

214322

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602473.1United Arab Emirates2PathogenicEncephalopathy, EthylmalonicAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 05.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 05.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.