NM_001128166.2:c.1279T>C

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  2. NM_001128166.2:c.1279T>C

HGVS Expressions

  • NG_008288.2:g.257228T>C
  • NM_001128166.2:c.1279T>C
  • NP_001121638.1:p.Tyr427His
  • NC_000023.11:g.111196512T>C

Associated Genes

p21 Protein-Aactivated Kinase 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300558.1United Arab Emirates1Likely PathogenicMental Retardation, X-Linked 30Al-Shamsi et al. 2016; Saleh et al. 2021; Hertecant et al. 2017
300558.2United Arab Emirates1Likely PathogenicMental Retardation, X-Linked 30Al-Shamsi et al. 2016; Saleh et al. 2021; Hertecant et al. 2017 Monozygotic twin of 300558.1
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Contributors

  • Pratibha Nair: 16.07.2020

Edit History

  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 22.02.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 16.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.