NM_000304.4:c.277G>C

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HGVS Expressions

  • NG_007949.1:g.30815G>C
  • NM_000304.4:c.277G>C
  • NP_000295.1:p.Gly93Arg
  • NC_000017.11:g.15239513C>G

Associated Genes

Peripheral Myelin Protein 22
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

778693173

Clinvar

637390

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601097.1Saudi Arabia1Uncertain SignificanceMonies et al. 2017 Patient has heterozygous variants in PMP...
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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.