NM_006493.4:c.448C>T

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HGVS Expressions

  • NG_009064.1:g.9087C>T
  • NM_006493.4:c.448C>T
  • NP_006484.2:p.Arg150Ter
  • NC_000013.11:g.76996010C>T

Associated Genes

CLN5 Intracellular Trafficking Protein
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

546989392

Clinvar

205144

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256731.1Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 5Monies et al. 2017
256731.2Saudi Arabia1PathogenicCeroid Lipofuscinosis, Neuronal, 5Monies et al. 2017
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Contributors

  • Asha Deepthi: 29.11.2024

Edit History

  • Asha Deepthi: 29.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.