NM_018972.4:c.485-2A>G

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HGVS Expressions

  • NG_008787.3:g.45753A>G
  • NM_018972.4:c.485-2A>G
  • NC_000008.11:g.74361882A>G

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

1586804734

Clinvar

637553

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
214400.2.1Algeria2NALikely PathogenicCharcot-Marie-Tooth Disease, Type 4ADe Sandre-Giovannoli et al. 2003 'ALG384-II.1' in the publication
214400.2.2Algeria2NALikely PathogenicCharcot-Marie-Tooth Disease, Type 4ADe Sandre-Giovannoli et al. 2003 'ALG384-II.2' in the publication, Sister...
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Contributors

    Edit History

    • Asha Deepthi: 04.03.2021
    • Asha Deepthi: 10.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.