NM_001365536.1:c.2720G>A

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HGVS Expressions

  • NG_012798.1:g.103851G>A
  • NM_001365536.1:c.2720G>A
  • NP_001352465.1:p.Arg907Gln
  • NC_000002.12:g.166277137C>T

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 9
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1024152367

Clinvar

938920

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243000.1Saudi Arabia2Likely PathogenicIndifference to Pain, Congenital, Autosomal RecessiveMonies et al. 2017
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Contributors

  • Asha Deepthi: 26.11.2024

Edit History

  • Asha Deepthi: 26.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.