NM_018972.4:c.668T>A

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HGVS Expressions

  • NG_008787.3:g.46898T>A
  • NM_018972.4:c.668T>A
  • NP_061845.2:p.Leu223Ter
  • NC_000008.11:g.74363027T>A

Associated Genes

Ganglioside-Induced Differentiation-Associated Protein 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

769449440

Clinvar

637554

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
214400.1Lebanon2NALikely PathogenicCharcot-Marie-Tooth Disease, Type 4ADe Sandre-Giovannoli et al. 2003 'LIB284-IV.2' in the publication
214400.GLebanon10Likely PathogenicCharcot-Marie-Tooth Disease, Type 4ADe Sandre-Giovannoli et al. 2003; Megarbane et al. 2022 5 patients from 4 families. Clinical fea...
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Contributors

    Edit History

    • Sami Bizzari: 21.03.2023
    • Precise Support: 08.11.2022
    • Asha Deepthi: 04.03.2021
    • Asha Deepthi: 10.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.