NM_000334.4:c.4382T>G

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  2. NM_000334.4:c.4382T>G

HGVS Expressions

  • NG_011699.1:g.36019T>G
  • NM_000334.4:c.4382T>G
  • NP_000325.4:p.Leu1461Arg
  • NC_000017.11:g.63941900A>C

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 4
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2144774799

Clinvar

1301840

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
168300.1Saudi Arabia1Likely PathogenicParamyotonia Congenita of Von Eulenburg
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Contributors

  • Pratibha Nair: 25.01.2024

Edit History

  • Pratibha Nair: 25.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.