NM_198056.2:c.2164A>G

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  2. NM_198056.2:c.2164A>G

HGVS Expressions

  • NG_008934.1:g.56846A>G
  • NM_198056.2:c.2164A>G
  • NP_932173.1:p.Thr722Ala

Associated Genes

Sodium Channel, Voltage-Gated, Type V, Alpha Subunit
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Genomic Location

chr3:38597827

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
600163.1.1Lebanon1Likely PathogenicJalkh et al. 2019 Consanguineous partner. Has 2 kids who d...
600163.1.2Lebanon1Likely PathogenicJalkh et al. 2019 Consanguineous partner. Has 2 kids who d...
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Contributors

  • Pratibha Nair: 21.10.2020

Edit History

  • Rahila Mir: 22.02.2022
  • Pratibha Nair: 21.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.