NM_181882.3:c.3099del

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HGVS Expressions

  • NG_007979.1:g.23112del
  • NM_181882.3:c.3099del
  • NP_870998.2:p.Glu1034ArgfsTer5
  • NC_000019.10:g.40395253del

Associated Genes

Periaxin
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1599651707

Clinvar

637394

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614895.3.1Egypt2PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4FMakrythanasis et al. 2014
614895.3.2Egypt2PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4FMakrythanasis et al. 2014 Sister of 614895.3.1
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Contributors

  • Sayeeda Hana: 01.03.2022

Edit History

  • Sayeeda Hana: 05.03.2022
  • Sayeeda Hana: 01.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.