NM_000304.4:c.449G>T

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HGVS Expressions

  • NG_007949.1:g.39377G>T
  • NM_000304.4:c.449G>T
  • NP_000295.1:p.Gly150Val
  • NC_000017.11:g.15230951C>A

Associated Genes

Peripheral Myelin Protein 22
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

879253954

Clinvar

433198

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
118220.1Saudi Arabia1PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 1AMonies et al. 2017
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Contributors

  • Asha Deepthi: 06.11.2024

Edit History

  • Asha Deepthi: 06.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.