NM_001378457.1:c.6257_6258insTTACATGA

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HGVS Expressions

  • NG_017155.1:g.146922_146923insTTACATGA
  • NM_001378457.1:c.6257_6258insTTACATGA
  • NP_001365386.1:p.Glu2086AspfsTer23
  • NC_000015.10:g.51480853_51480854insTAATCATG

Associated Genes

DMX-Like 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

dbSNP

1595955503

Clinvar

694529

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618663.1Saudi Arabia2Likely PathogenicDevelopmental and Epileptic Encephalopathy 81Maddirevula et al. 2019
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Contributors

  • Pratibha Nair: 04.10.2022

Edit History

  • Pratibha Nair: 04.10.2022
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.