NM_001032221.6:c.560C>G

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HGVS Expressions

  • NG_016623.1:g.56129C>G
  • NM_001032221.6:c.560C>G
  • NP_001027392.1:p.Pro187Arg
  • NC_000009.12:g.127663335C>G

Associated Genes

Syntaxin-Binding Protein 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612164.3United Arab Emirates1Likely PathogenicDevelopmental and Epileptic Encephalopathy 4Pawar et al. 2023
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Contributors

  • Pratibha Nair: 10.01.2024

Edit History

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