NM_004408.4:c.127G>A

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  2. NM_004408.4:c.127G>A

HGVS Expressions

  • NG_029726.1:g.5214G>A
  • NM_004408.4:c.127G>A
  • NP_004399.2:p.Gly43Ser
  • NC_000009.12:g.128203597G>A

Associated Genes

Dynamin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1554767313

Clinvar

520545

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616346.1Saudi Arabia1PathogenicDevelopmental and Epileptic Encephalopathy 31AMonies et al. 2017
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Contributors

  • Asha Deepthi: 08.01.2025

Edit History

  • Asha Deepthi: 08.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.