NM_018972.2:c.92G>A

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HGVS Expressions

  • NG_008787.3:g.34424G>A
  • NM_018972.2:c.92G>A
  • NP_061845.2:p.Trp31Ter

Associated Genes

Ganglioside-Induced Differentiation-Associated Protein 1
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Genomic Location

Chr8:74350553

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908112

Clinvar

4190

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
214400.G.1.1Tunisia2NAPathogenicCharcot-Marie-Tooth Disease, Type 4ABaxter et al. 2002 Unknown number of patients from families...
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Contributors

    Edit History

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