NM_006922.4:c.2624T>C

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HGVS Expressions

  • NG_042289.1:g.78851T>C
  • NM_006922.4:c.2624T>C
  • NP_008853.3:p.Ile875Thr
  • NC_000002.12:g.165130238A>G

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1057518801

Clinvar

373960

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617938.1United Arab Emirates1PathogenicDevelopmental And Epileptic Encephalopathy 62Smith et al. 2018
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Contributors

  • Sayeeda Hana: 19.05.2022

Edit History

  • Sayeeda Hana: 19.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.