NM_001386393.1:c.498_499del

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  2. NM_001386393.1:c.498_499del

HGVS Expressions

  • NG_008131.3:g.24283TG[2]
  • NM_001386393.1:c.498_499del
  • NP_001373322.1:p.Cys166TrpfsTer15
  • NC_000020.11:g.3908121TG[2]

Associated Genes

Pantothenate Kinase 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

748911913

Clinvar

2585439

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
234200.1Saudi Arabia2PathogenicNeurodegeneration with Brain Iron Accumulation 1Monies et al. 2017
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Contributors

  • Asha Deepthi: 16.12.2024

Edit History

  • Asha Deepthi: 16.12.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.