NM_001013703.3:c.665C>T

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HGVS Expressions

  • NG_034053.1:g.26567C>T
  • NM_001013703.3:c.665C>T
  • NP_001013725.2:p.Thr222Met
  • NC_000015.10:g.39955690C>T

Associated Genes

Eukaryotic Translation Initiation Factor 2-Alpha Kinase 4
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CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

763789806

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.2United Arab Emirates1Likely BenignAlsamri et al. 2020; Alsamri et al. 2021 Sibling of 178500.1.1; Several variants ...
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Contributors

  • Pratibha Nair: 17.02.2022

Edit History

  • Pratibha Nair: 17.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.