NM_205768.3:c.593C>G

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HGVS Expressions

  • NG_033841.1:g.10429C>G
  • NM_205768.3:c.593C>G
  • NP_991331.1:p.Ser198Ter
  • NC_000001.11:g.244054367C>G

Associated Genes

Zinc Finger- and BTB Domain-Containing Protein 18
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

768129179

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612337.1United Arab Emirates1Likely PathogenicMental Retardation, Autosomal Dominant 22Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 20.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 20.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.