NM_001284333.1:c.1850C>T

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HGVS Expressions

  • NM_001284333.1:c.1850C>T
  • NP_001271262.1:p.Ser617Leu
  • NC_000017.11:g.62602105C>T

Associated Genes

Tousled-Like Kinase 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

2082914686

Clinvar

978817

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618050.1United Arab Emirates1PathogenicMental Retardation, Autosomal Dominant 57Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 13.09.2021

Edit History

  • Pratibha Nair: 20.07.2022
  • Pratibha Nair: 13.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.