NM_022489.4:c.312C>G

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  2. NM_022489.4:c.312C>G

HGVS Expressions

  • NG_027684.2:g.17061C>G
  • NM_022489.4:c.312C>G
  • NP_071934.3:p.Cys104Trp
  • NC_000014.9:g.104701677C>G

Associated Genes

Inverted Formin 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

387907036

Clinvar

30866

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614455.1Lebanon1Likely PathogenicCharcot-Marie-Tooth Disease, Dominant Intermediate EMegarbane et al. 2022 Clinical features not specified.
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Contributors

  • Sami Bizzari: 22.03.2023

Edit History

  • Sami Bizzari: 22.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.