NM_001032221.6:c.1099C>T

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HGVS Expressions

  • NG_016623.1:g.66044C>T
  • NM_001032221.6:c.1099C>T
  • NP_001027392.1:p.Arg367Ter
  • NC_000009.12:g.127673250C>T

Associated Genes

Syntaxin-Binding Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

796053366

Clinvar

207429

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612164.2United Arab Emirates1NAPathogenicDevelopmental and Epileptic Encephalopathy 4Mahfouz et al. 2020
612164.7United Arab Emirates1Likely PathogenicDevelopmental and Epileptic Encephalopathy 4Pawar et al. 2023
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Contributors

  • Asha Deepthi: 15.07.2022

Edit History

  • Pratibha Nair: 10.01.2024
  • Asha Deepthi: 15.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.