NM_015213.4:c.2547del

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HGVS Expressions

  • NG_053019.1:g.119597del
  • NM_015213.4:c.2547del
  • NP_056028.2:p.Lys850SerfsTer11
  • NC_000011.10:g.9150740del

Associated Genes

DENN Domain-Containing Protein 5A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1057519308

Clinvar

374926

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617281.2Jordan2NAPathogenicDevelopmental and Epileptic Encephalopathy 49Han et al. 2016 Patient from 'family 2' in the publicati...
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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.