NM_139241.3:c.1325G>A

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HGVS Expressions

  • NG_008626.2:g.216742G>A
  • NM_139241.3:c.1325G>A
  • NP_640334.2:p.Arg442His
  • NC_000012.12:g.32611270G>A

Associated Genes

FYVE, RhoGEF and PH Domain-Containing Protein 4
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

281865063

Clinvar

38443

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609311.1.1Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4HBaudot et al, 2012
609311.1.2Algeria1PathogenicBaudot et al, 2012 Unaffected father of 609311.1.1
609311.1.3Algeria1PathogenicBaudot et al, 2012 Unaffected mother of 609311.1.1
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Contributors

  • Sayeeda Hana: 26.02.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 26.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.