NM_001323289.2:c.593G>A

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  2. NM_001323289.2:c.593G>A

HGVS Expressions

  • NG_008475.1:g.167388G>A
  • NM_001323289.2:c.593G>A
  • NP_003150.1:p.Gly198Asp
  • NC_000023.11:g.18587992G>A

Associated Genes

Cyclin-Dependent Kinase-Like 5
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1925696959

Clinvar

1006298

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300672.1United Arab Emirates1PathogenicEpileptic Encephalopathy, Early Infantile, 2Al-Shamsi et al. 2016 De novo mutation in an X-linked gene. Lo...
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Contributors

  • Pratibha Nair: 07.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 07.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.