NM_015213.4:c.517_518del

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HGVS Expressions

  • NG_053019.1:g.66242GA[1]
  • NM_015213.4:c.517_518del
  • NP_056028.2:p.Asp173ProfsTer8
  • NC_000011.10:g.9204092CT[1]

Associated Genes

DENN Domain-Containing Protein 5A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

1057519307

Clinvar

374925

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617281.1.1Saudi Arabia2NAPathogenicDevelopmental and Epileptic Encephalopathy 49Han et al. 2016 Patient from 'family 1' in the publicati...
617281.1.2Saudi Arabia2NAPathogenicDevelopmental and Epileptic Encephalopathy 49Han et al. 2016 Sister of 617281.1.1
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Contributors

  • Asha Deepthi: 10.02.2023

Edit History

  • Asha Deepthi: 10.02.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.